North West Genomics Testing Workflow (GTW)
0.0.1 - ci-build
North West Genomics Testing Workflow (GTW)
0.0.1 - ci-build
DRAFT Implementation Guide
This is for collaboration and discussion purposes and is subject to change.
North West Genomics Testing Workflow (GTW) - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Draft as of 2025-02-23 |
<Questionnaire xmlns="http://hl7.org/fhir">
<id value="81247-9"/>
<text>
<status value="extensions"/>
<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Questionnaire 81247-9</b></p><a name="81247-9"> </a><a name="hc81247-9"> </a><a name="81247-9-en-GB"> </a><b>Structure</b><table border="1" cellpadding="0" cellspacing="0" style="border: 1px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top;"><tr style="border: 2px #F0F0F0 solid; font-size: 11px; font-family: verdana; vertical-align: top"><th style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="http://hl7.org/fhir/R4/formats.html#table" title="The linkID for the item">LinkID</a></th><th style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="http://hl7.org/fhir/R4/formats.html#table" title="Text for the item">Text</a></th><th style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="http://hl7.org/fhir/R4/formats.html#table" title="Minimum and Maximum # of times the item can appear in the instance">Cardinality</a></th><th style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="http://hl7.org/fhir/R4/formats.html#table" title="The type of the item">Type</a></th><th style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; padding-top: 3px; padding-bottom: 3px" class="hierarchy"><a href="http://hl7.org/fhir/R4/formats.html#table" title="Additional information about the item">Description & Constraints</a><span style="float: right"><a href="http://hl7.org/fhir/R4/formats.html#table" title="Legend for this format"><img src="data:image/png;base64,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" alt="doco" style="background-color: inherit"/></a></span></th></tr><tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1.png)" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon_q_root.gif" alt="." style="background-color: white; background-color: inherit" title="QuestionnaireRoot" class="hierarchy"/> </td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Questionnaire</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">https://hl7.mft.nhs.uk/Questionnaire/81247-9#0.0.1</td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11.png)" id="item./81306-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> /81306-3</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Overall study variables type</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/53577-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/53577-3</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Reason for study</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/53577-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/53577-3-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The freeform text that is entered by the ordering provider to further annotate the coded Reason for Study [LOINC: 51967-8] associated with an ordered test. In HL7 v2 messages, OBR-31 should be used to report the reason for study.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/51967-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/51967-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene dis assessed</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/51967-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/51967-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Coded identifier of the disorder being assessed but with exception to allow the recording of something not included in the controlled vocabulary that is being used. Various coding systems may be used, including ICD-9-CM, ICD-10-CM, SCT and NCBI MedGen.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/51963-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/51963-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Medication assessed</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/51963-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/51963-7-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">A coded medication assessed in a pharmacogenic test (recommend RxNorm)</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/48018-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/48018-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene studied ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/48018-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/48018-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/36908-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/36908-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene Mut Tested Bld/T</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/36908-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/36908-2-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">For targeted mutation analysis, report the discrete mutations the study is designed to detect. In HL7 V2 they can be reported in one observation as a list separated by repeat delimiters OR as a series of separate OBX segments, one per mutation tested for. In FHIR, multiple coded entries can not be reported as a list in one observation value field. They must be reported as the values of separate observations.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/51959-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/51959-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA region of interest NumRange</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/51959-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/51959-5-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the region(s) of interest for sequencing studies as one or more numeric ranges that identify the parts of the reference sequence that are sequenced. These can be recorded as one or more HL7 numeric ranges using repeat delimiters to seperate multiple such ranges. They can also be recorded singly, one per OBX, using OBX-4 to distinguish these repeats with the same Observation ID. However, such detailed specification of the sequencing region of interest is rare, in part because this information is often proprietary, and the region of interest is reported as a text description instead, e.g., "Sequenced all of the coding, and appropriate flanking regions," using [LOINC: 81293-3].</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/81293-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/81293-3</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA range(s) examined Nar</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/81293-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/81293-3-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report a narrative description of the range(s) of DNA sequences examined in this sequencing study. Genetic test reports only rarely include explicit numeric ranges (which would be reported using [LOINC: 51959-5]) beause they are often proprietary, and more often describe the regions examined in narrative. For example, "all coding regions and appropriate flanking regions." To report the region of interest (e.g., in terms of introns and exons) rather than the specific DNA sequences examined, [LOINC: 47999-8] may be used.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/51968-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81306-3/51968-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene dis anl interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81306-3/51968-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/51968-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81306-3/51968-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81306-3/83006-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81306-3/83006-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Del-dup interp Patient-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81306-3/83006-7">3 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/51969-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81306-3/51969-4</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene analysis narr rpt Doc</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/51969-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81306-3/51969-4-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Narative report in disease diagnostic-based format.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/81291-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81306-3/81291-7</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var ISCN name</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/81291-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81306-3/81291-7-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">ISCN is a syntax for describing cytogenetic findings, from classical karyotypes to details that can be observed with copy number methodologies. Using ISCN nomenclature is highly recommended for reporting structural variants.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/62374-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81306-3/62374-4</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human ref seq assembly+build</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81306-3/62374-4">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/62374-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81306-3/62374-4-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The NCBI build id for human genome assemblies.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81306-3/81303-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81306-3/81303-0</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HGVS version</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81306-3/81303-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81306-3/81303-0-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Report the version of HGVS used for all observations specified using HGVS nomenclature. Any change in the HGVS recommendations will get a new version number based on the date of the change. The format for reporting the HGVS version used is: <version #>.<date produced in YYMMDD format>, for example, 2.120831.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81306-3/82115-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81306-3/82115-7</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">dbSNP version</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81306-3/83007-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81306-3/83007-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">COSMIC version</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck100.png)" id="item./81306-3/83008-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81306-3/83008-3</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">ClinVar version</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11.png)" id="item./81250-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> /81250-3</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Simple var pnl</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81250-3/83005-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/83005-9</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Variant category</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/83005-9">2 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81252-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/81252-9</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Simple var ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81252-9-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81252-9-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48018-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/48018-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene studied ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48018-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48018-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/51958-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/51958-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Transcript ref sequence ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/51958-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/51958-7-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48004-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/48004-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA change</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48004-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48004-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48005-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/48005-3</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Amino acid change</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48005-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48005-3-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48019-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/48019-4</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA Change Type</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/48019-4">17 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48019-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48019-4-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48006-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/48006-1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Amino acid change type</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/48006-1">11 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48006-1-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48006-1-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48013-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/48013-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genomic reference sequence ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48013-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48013-7-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81290-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/81290-9</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var HGVS name</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81290-9-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81290-9-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The name of a structural variant reported using HGVS nomenclature.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/69547-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/69547-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Ref nucleotide</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/69547-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/69547-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81254-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/81254-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gen allele loc ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81254-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81254-5-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/69551-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/69551-0</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Alt allele</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/69551-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/69551-0-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81250-3/84414-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/84414-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Haplotype name Bld/T</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81255-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81250-3/81255-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">dbSNP ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81255-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81255-2-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81257-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81250-3/81257-8</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">CIGAR var ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81257-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81257-8-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81250-3/48001-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81250-3/48001-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Cyto loc ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/48002-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/48002-0</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genomic source class</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/48002-0">8 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/48002-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/48002-0-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81304-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/81304-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var analysis method</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/81304-8">23 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81304-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81304-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/53037-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/53037-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene dis seq var interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/53037-8">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/53037-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/53037-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/69548-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/69548-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genetic var assess</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/69548-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/69548-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/69548-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81259-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81250-3/81259-4</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Prob assoc phenotype</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81259-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81259-4-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The possible phenotype associated with the genetic variant found in this study.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/53034-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/53034-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic state</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/53034-5">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/53034-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/53034-5-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81250-3/81258-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> /81250-3/81258-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Sample VAF</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81250-3/81258-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3/81258-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81250-3/82121-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> /81250-3/82121-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic read depth</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81250-3/82120-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/82120-7</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic phase</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/82120-7">9 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81250-3/82309-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81250-3/82309-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Basis allelic phase</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81250-3/82309-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck100.png)" id="item./81250-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81250-3-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11.png)" id="item./81297-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> /81297-4</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct variant pnl</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81297-4/82155-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> /81297-4/82155-3</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gen struct var copy num</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81297-4/81299-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> /81297-4/81299-0</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var rep arrCGH Rto</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81297-4/81300-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> /81297-4/81300-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var len</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81297-4/81300-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81297-4/81300-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Length of the structural variant, which information may be ascertained in some but not all types of structural variants.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81297-4/81301-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> /81297-4/81301-4</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var outer start-end NumRange</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81297-4/81301-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81297-4/81301-4-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic coordinates of the widest genomic range in which the variant might reside.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck101.png)" id="item./81297-4/81302-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> /81297-4/81302-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var inner start-end NumRange</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1000.png)" id="item./81297-4/81302-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81297-4/81302-2-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic coordinates of the narrowest genomic range in which the variant might reside.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11.png)" id="item./81251-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> /81251-1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Comp var pnl</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/81260-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81260-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Comp var ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/81260-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81260-2-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique identifier of the complex variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_000106.5(CYP2D6):c.[886C>T;457G>C] - Haplotype has the ClinVar ID 16895. [http://www.ncbi.nlm.nih.gov/clinvar/variation/16895/]</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/81262-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81262-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Comp var HGVS name</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/81262-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81262-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the name of the complex variant found in this study in HGVS format. For example, c.[886C>T;457G>C], which represents two separate base substitutions in one gene on one chromosome, or c.[886C>T];[457G>C], which represents two separate base substitutions in one gene on two different chromosomes.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/81263-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81263-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Comp var type</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81263-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/81263-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81263-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The type of complex variant, for example, compound heterozygous or haplotype.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/81259-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81259-4</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Prob assoc phenotype</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/81259-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81259-4-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The possible phenotype associated with the genetic variant found in this study.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/53037-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/53037-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene dis seq var interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/53037-8">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/53037-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/53037-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/53034-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/53034-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic state</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/53034-5">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/53034-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/53034-5-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./81251-1/82309-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/82309-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Basis allelic phase</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/82309-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./81251-1/81250-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> /81251-1/81250-3</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Simple var pnl</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1110.png)" id="item./81251-1/81250-3/83005-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/83005-9</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Variant category</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/83005-9">2 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81252-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/81252-9</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Simple var ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81252-9-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81252-9-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48018-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/48018-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene studied ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48018-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48018-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/51958-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/51958-7</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Transcript ref sequence ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/51958-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/51958-7-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48004-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/48004-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA change</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48004-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48004-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48005-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/48005-3</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Amino acid change</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48005-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48005-3-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48019-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/48019-4</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA Change Type</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/48019-4">17 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48019-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48019-4-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48006-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/48006-1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Amino acid change type</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/48006-1">11 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48006-1-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48006-1-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48013-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/48013-7</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genomic reference sequence ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48013-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48013-7-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81290-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/81290-9</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var HGVS name</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81290-9-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81290-9-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The name of a structural variant reported using HGVS nomenclature.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/69547-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/69547-8</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Ref nucleotide</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/69547-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/69547-8-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81254-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/81254-5</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gen allele loc ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81254-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81254-5-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/69551-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/69551-0</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Alt allele</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/69551-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/69551-0-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1110.png)" id="item./81251-1/81250-3/84414-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/84414-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Haplotype name Bld/T</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81255-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/81255-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">dbSNP ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81255-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81255-2-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81257-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/81257-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">CIGAR var ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81257-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81257-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1110.png)" id="item./81251-1/81250-3/48001-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/48001-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Cyto loc ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/48002-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/48002-0</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genomic source class</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/48002-0">8 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/48002-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/48002-0-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81304-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/81304-8</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var analysis method</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/81304-8">23 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81304-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81304-8-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/53037-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/53037-8</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene dis seq var interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/53037-8">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/53037-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/53037-8-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/69548-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/69548-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genetic var assess</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/69548-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/69548-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/69548-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81259-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /81251-1/81250-3/81259-4</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Prob assoc phenotype</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81259-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81259-4-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The possible phenotype associated with the genetic variant found in this study.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/53034-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/53034-5</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic state</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/53034-5">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/53034-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/53034-5-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1111.png)" id="item./81251-1/81250-3/81258-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> /81251-1/81250-3/81258-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Sample VAF</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11100.png)" id="item./81251-1/81250-3/81258-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3/81258-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1110.png)" id="item./81251-1/81250-3/82121-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="decimal" class="hierarchy"/> /81251-1/81250-3/82121-5</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic read depth</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1110.png)" id="item./81251-1/81250-3/82120-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/82120-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic phase</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/82120-7">9 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1110.png)" id="item./81251-1/81250-3/82309-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /81251-1/81250-3/82309-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Basis allelic phase</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./81251-1/81250-3/82309-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./81251-1/81250-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /81251-1/81250-3-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck100.png)" id="item./81251-1-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /81251-1-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This panel is used to report information related to a complex genetic variant and includes a repeating subpanel for reporting specific information for each simple variation that the complex variant includes.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck11.png)" id="item./82118-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> /82118-1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Pharmg result pnl</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./82118-1/48018-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /82118-1/48018-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene studied ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./82118-1/48018-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /82118-1/48018-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./82118-1/84413-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /82118-1/84413-4</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genotype name Patient</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./82118-1/53040-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /82118-1/53040-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Drug metab seq var interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./82118-1/53040-2">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./82118-1/53040-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /82118-1/53040-2-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Predicted phenotype for drug efficacy. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC). The previous answer list number was LL609-9, and three of the answer strings and LA codes are the same in the new list (ultrarapid metabolizer, intermediate metabolizer, and poor metabolizer). In the new answer list, the extensive metabolizer answer (LA10316-0) from LL609-9 has been replaced with two new answers (rapid metabolizer, normal metabolizer). LA10316-0 is still a valid LA code for the "extensive metabolizer" answer string.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck111.png)" id="item./82118-1/51961-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /82118-1/51961-1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Drug eff seq var interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./82118-1/51961-1">8 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1100.png)" id="item./82118-1/51961-1-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /82118-1/51961-1-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Predicted phenotype for ability of drug to bind to intended site in order to deliver intended affect. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck110.png)" id="item./82118-1/83009-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /82118-1/83009-1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genetic var eff high-risk allele</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./82118-1/83009-1">2 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck101.png)" id="item./82118-1/82117-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="group" class="hierarchy"/> /82118-1/82117-3</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Med usage impl pnl</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1011.png)" id="item./82118-1/82117-3/51963-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /82118-1/82117-3/51963-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Medication assessed</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck10100.png)" id="item./82118-1/82117-3/51963-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /82118-1/82117-3/51963-7-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">A coded medication assessed in a pharmacogenic test (recommend RxNorm)</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1010.png)" id="item./82118-1/82117-3/82116-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /82118-1/82117-3/82116-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Med usage sugg</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./82118-1/82117-3/82116-5">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck1000.png)" id="item./82118-1/82117-3/83010-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /82118-1/82117-3/83010-9</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Med usage sugg Patient-Imp</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck01.png)" id="item./83011-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> /83011-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Haplotype definition Pnl</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck011.png)" id="item./83011-7/48018-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /83011-7/48018-6</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene studied ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0100.png)" id="item./83011-7/48018-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /83011-7/48018-6-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck010.png)" id="item./83011-7/84414-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /83011-7/84414-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Haplotype name Bld/T</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck001.png)" id="item./83011-7/81250-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-group.png" alt="." style="background-color: white; background-color: inherit" title="group" class="hierarchy"/> /83011-7/81250-3</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Simple var pnl</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-group">group</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)" id="item./83011-7/81250-3/83005-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/83005-9</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Variant category</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/83005-9">2 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81252-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/81252-9</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Simple var ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81252-9-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81252-9-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48018-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/48018-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene studied ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48018-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48018-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/51958-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/51958-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Transcript ref sequence ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/51958-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/51958-7-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48004-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/48004-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA change</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48004-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48004-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48005-3" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/48005-3</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Amino acid change</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48005-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48005-3-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48019-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/48019-4</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">DNA Change Type</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/48019-4">17 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48019-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48019-4-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48006-1" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/48006-1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Amino acid change type</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/48006-1">11 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48006-1-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48006-1-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48013-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/48013-7</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genomic reference sequence ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48013-7-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48013-7-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81290-9" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/81290-9</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var HGVS name</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81290-9-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81290-9-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The name of a structural variant reported using HGVS nomenclature.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/69547-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/69547-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Ref nucleotide</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/69547-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/69547-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81254-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/81254-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gen allele loc ID</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81254-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81254-5-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/69551-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/69551-0</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Alt allele</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/69551-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/69551-0-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)" id="item./83011-7/81250-3/84414-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/84414-2</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Haplotype name Bld/T</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81255-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/81255-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">dbSNP ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81255-2-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81255-2-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81257-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/81257-8</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">CIGAR var ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81257-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: white; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81257-8-help</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)" id="item./83011-7/81250-3/48001-2" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/48001-2</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Cyto loc ID</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/48002-0" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/48002-0</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genomic source class</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/48002-0">8 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/48002-0-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/48002-0-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81304-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/81304-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Struct var analysis method</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/81304-8">23 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81304-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81304-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/53037-8" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/53037-8</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Gene dis seq var interp-Imp</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/53037-8">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/53037-8-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/53037-8-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/69548-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/69548-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Genetic var assess</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/69548-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/69548-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/69548-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81259-4" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-string.png" alt="." style="background-color: white; background-color: inherit" title="string" class="hierarchy"/> /83011-7/81250-3/81259-4</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Prob assoc phenotype</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-string">string</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81259-4-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81259-4-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The possible phenotype associated with the genetic variant found in this study.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/53034-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/53034-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic state</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/53034-5">5 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/53034-5-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/53034-5-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0011.png)" id="item./83011-7/81250-3/81258-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> /83011-7/81250-3/81258-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Sample VAF</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck00100.png)" id="item./83011-7/81250-3/81258-6-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vline.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3/81258-6-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)" id="item./83011-7/81250-3/82121-5" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-decimal.png" alt="." style="background-color: white; background-color: inherit" title="decimal" class="hierarchy"/> /83011-7/81250-3/82121-5</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic read depth</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-decimal">decimal</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)" id="item./83011-7/81250-3/82120-7" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/82120-7</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Allelic phase</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/82120-7">9 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: white"><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0010.png)" id="item./83011-7/81250-3/82309-6" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-coding.png" alt="." style="background-color: white; background-color: inherit" title="coding" class="hierarchy"/> /83011-7/81250-3/82309-6</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Basis allelic phase</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-choice">choice</a></td><td style="vertical-align: top; text-align : left; background-color: white; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">Options: <a href="#opt-item./83011-7/81250-3/82309-6">4 options</a></td></tr>
<tr style="border: 1px #F0F0F0 solid; padding:0px; vertical-align: top; background-color: #F7F7F7"><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px; white-space: nowrap; background-image: url(tbl_bck0000.png)" id="item./83011-7/81250-3-help" class="hierarchy"><img src="tbl_spacer.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_blank.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="tbl_vjoin_end.png" alt="." style="background-color: inherit" class="hierarchy"/><img src="icon-q-display.png" alt="." style="background-color: #F7F7F7; background-color: inherit" title="display" class="hierarchy"/> /83011-7/81250-3-help</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy">0..1</td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"><a href="http://hl7.org/fhir/R4/codesystem-item-type.html#item-type-display">display</a></td><td style="vertical-align: top; text-align : left; background-color: #F7F7F7; border: 1px #F0F0F0 solid; padding:0px 4px 0px 4px" class="hierarchy"/></tr>
<tr><td colspan="5" class="hierarchy"><br/><a href="http://hl7.org/fhir/R4/formats.html#table" title="Legend for this format"><img src="data:image/png;base64,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" alt="doco" style="background-color: inherit"/> Documentation for this format</a></td></tr></table><hr/><p><b>Options Sets</b></p><a name="opt-item./81306-3/51968-6"> </a><p><b>Answer options for /81306-3/51968-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6576-8 ("Positive")</li><li style="font-size: 11px">http://loinc.org#LA6577-6 ("Negative")</li><li style="font-size: 11px">http://loinc.org#LA9663-1 ("Inconclusive")</li><li style="font-size: 11px">http://loinc.org#LA9664-9 ("Failure")</li></ul><a name="opt-item./81306-3/83006-7"> </a><p><b>Answer options for /81306-3/83006-7 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26803-9 ("No deletion or duplication detected in studied region")</li><li style="font-size: 11px">http://loinc.org#LA26804-7 ("Deletion and/or duplication detected in studied regions")</li><li style="font-size: 11px">http://loinc.org#LA9663-1 ("Inconclusive")</li></ul><a name="opt-item./81306-3/62374-4"> </a><p><b>Answer options for /81306-3/62374-4 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA14032-9 ("NCBI Build 34")</li><li style="font-size: 11px">http://loinc.org#LA14029-5 ("GRCh37")</li><li style="font-size: 11px">http://loinc.org#LA14030-3 ("NCBI Build 36.1")</li><li style="font-size: 11px">http://loinc.org#LA14031-1 ("NCBI Build 35")</li><li style="font-size: 11px">http://loinc.org#LA26806-2 ("GRCh38")</li></ul><a name="opt-item./81250-3/83005-9"> </a><p><b>Answer options for /81250-3/83005-9 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26801-3 ("Simple variant")</li><li style="font-size: 11px">http://loinc.org#LA26802-1 ("Structural variant")</li></ul><a name="opt-item./81250-3/48019-4"> </a><p><b>Answer options for /81250-3/48019-4 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9658-1 ("Wild type")</li><li style="font-size: 11px">http://loinc.org#LA6692-3 ("Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6686-5 ("Duplication")</li><li style="font-size: 11px">http://loinc.org#LA6687-3 ("Insertion")</li><li style="font-size: 11px">http://loinc.org#LA6688-1 ("Insertion/Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6689-9 ("Inversion")</li><li style="font-size: 11px">http://loinc.org#LA6690-7 ("Substitution")</li><li style="font-size: 11px">http://loinc.org#LA14033-7 ("Copy number gain")</li><li style="font-size: 11px">http://loinc.org#LA14034-5 ("Copy number loss")</li><li style="font-size: 11px">http://loinc.org#LA26324-6 ("Mobile element insertion")</li><li style="font-size: 11px">http://loinc.org#LA26325-3 ("Novel sequence insertion")</li><li style="font-size: 11px">http://loinc.org#LA26326-1 ("Tandem duplication")</li><li style="font-size: 11px">http://loinc.org#LA26327-9 ("Intrachromosomal breakpoint")</li><li style="font-size: 11px">http://loinc.org#LA26328-7 ("Interchromosomal breakpoint")</li><li style="font-size: 11px">http://loinc.org#LA26331-1 ("Translocation")</li><li style="font-size: 11px">http://loinc.org#LA26330-3 ("Complex")</li><li style="font-size: 11px">http://loinc.org#LA26329-5 ("Sequence alteration")</li></ul><a name="opt-item./81250-3/48006-1"> </a><p><b>Answer options for /81250-3/48006-1 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9658-1 ("Wild type")</li><li style="font-size: 11px">http://loinc.org#LA6692-3 ("Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6686-5 ("Duplication")</li><li style="font-size: 11px">http://loinc.org#LA6694-9 ("Frameshift")</li><li style="font-size: 11px">http://loinc.org#LA6695-6 ("Initiating Methionine")</li><li style="font-size: 11px">http://loinc.org#LA6687-3 ("Insertion")</li><li style="font-size: 11px">http://loinc.org#LA9659-9 ("Insertion and Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6698-0 ("Missense")</li><li style="font-size: 11px">http://loinc.org#LA6699-8 ("Nonsense")</li><li style="font-size: 11px">http://loinc.org#LA6700-4 ("Silent")</li><li style="font-size: 11px">http://loinc.org#LA6701-2 ("Stop Codon Mutation")</li></ul><a name="opt-item./81250-3/48002-0"> </a><p><b>Answer options for /81250-3/48002-0 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6683-2 ("Germline")</li><li style="font-size: 11px">http://loinc.org#LA6684-0 ("Somatic")</li><li style="font-size: 11px">http://loinc.org#LA10429-1 ("Fetal")</li><li style="font-size: 11px">http://loinc.org#LA18194-3 ("Likely germline")</li><li style="font-size: 11px">http://loinc.org#LA18195-0 ("Likely somatic")</li><li style="font-size: 11px">http://loinc.org#LA18196-8 ("Likely fetal")</li><li style="font-size: 11px">http://loinc.org#LA18197-6 ("Unknown genomic origin")</li><li style="font-size: 11px">http://loinc.org#LA26807-0 ("De novo")</li></ul><a name="opt-item./81250-3/81304-8"> </a><p><b>Answer options for /81250-3/81304-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26398-0 ("Sequencing")</li><li style="font-size: 11px">http://loinc.org#LA26399-8 ("Oligo aCGH")</li><li style="font-size: 11px">http://loinc.org#LA26400-4 ("SNP array")</li><li style="font-size: 11px">http://loinc.org#LA26401-2 ("BAC aCGH")</li><li style="font-size: 11px">http://loinc.org#LA26402-0 ("Curated")</li><li style="font-size: 11px">http://loinc.org#LA26403-8 ("Digital array")</li><li style="font-size: 11px">http://loinc.org#LA26404-6 ("FISH")</li><li style="font-size: 11px">http://loinc.org#LA26405-3 ("Gene expression array")</li><li style="font-size: 11px">http://loinc.org#LA26406-1 ("Karyotyping")</li><li style="font-size: 11px">http://loinc.org#LA26407-9 ("MAPH")</li><li style="font-size: 11px">http://loinc.org#LA26408-7 ("MALDI-TOF")</li><li style="font-size: 11px">http://loinc.org#LA26808-8 ("Merging")</li><li style="font-size: 11px">http://loinc.org#LA26414-5 ("Multiple complete digestion")</li><li style="font-size: 11px">http://loinc.org#LA26415-2 ("MLPA")</li><li style="font-size: 11px">http://loinc.org#LA26417-8 ("Optical mapping")</li><li style="font-size: 11px">http://loinc.org#LA26418-6 ("PCR")</li><li style="font-size: 11px">http://loinc.org#LA26419-4 ("qPCR (real-time PCR)")</li><li style="font-size: 11px">http://loinc.org#LA26420-2 ("ROMA")</li><li style="font-size: 11px">http://loinc.org#LA26809-6 ("Denaturing high-pressure liquid chromatography (DHPLC)")</li><li style="font-size: 11px">http://loinc.org#LA26810-4 ("DNA hybridization")</li><li style="font-size: 11px">http://loinc.org#LA26811-2 ("Computational analysis")</li><li style="font-size: 11px">http://loinc.org#LA26812-0 ("Single-stranded conformational polymorphism (SSCP)")</li><li style="font-size: 11px">http://loinc.org#LA26813-8 ("Restriction fragment length polymorphism (RFLP)")</li></ul><a name="opt-item./81250-3/53037-8"> </a><p><b>Answer options for /81250-3/53037-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6668-3 ("Pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26332-9 ("Likely pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26333-7 ("Uncertain significance")</li><li style="font-size: 11px">http://loinc.org#LA26334-5 ("Likely benign")</li><li style="font-size: 11px">http://loinc.org#LA6675-8 ("Benign")</li></ul><a name="opt-item./81250-3/69548-6"> </a><p><b>Answer options for /81250-3/69548-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9633-4 ("Present")</li><li style="font-size: 11px">http://loinc.org#LA9634-2 ("Absent")</li><li style="font-size: 11px">http://loinc.org#LA18198-4 ("No call")</li><li style="font-size: 11px">http://loinc.org#LA11884-6 ("Indeterminate")</li></ul><a name="opt-item./81250-3/53034-5"> </a><p><b>Answer options for /81250-3/53034-5 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6703-8 ("Heteroplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6704-6 ("Homoplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6705-3 ("Homozygous")</li><li style="font-size: 11px">http://loinc.org#LA6706-1 ("Heterozygous")</li><li style="font-size: 11px">http://loinc.org#LA6707-9 ("Hemizygous")</li></ul><a name="opt-item./81250-3/82120-7"> </a><p><b>Answer options for /81250-3/82120-7 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26814-6 ("1st set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26815-3 ("2nd set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26816-1 ("3rd set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26817-9 ("4th set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26818-7 ("5th set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26320-4 ("Maternal")</li><li style="font-size: 11px">http://loinc.org#LA26321-2 ("Paternal")</li><li style="font-size: 11px">http://loinc.org#LA4489-6 ("Unknown")</li><li style="font-size: 11px">http://loinc.org#LA46-8 ("Other")</li></ul><a name="opt-item./81250-3/82309-6"> </a><p><b>Answer options for /81250-3/82309-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26426-9 ("Directly measured")</li><li style="font-size: 11px">http://loinc.org#LA26427-7 ("Family DNA")</li><li style="font-size: 11px">http://loinc.org#LA26428-5 ("Family history")</li><li style="font-size: 11px">http://loinc.org#LA26429-3 ("Inferred from population data")</li></ul><a name="opt-item./81251-1/81263-6"> </a><p><b>Answer options for /81251-1/81263-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26217-2 ("Compound heterozygous")</li><li style="font-size: 11px">http://loinc.org#LA26220-6 ("Double heterozygous")</li><li style="font-size: 11px">http://loinc.org#LA26218-0 ("Haplotype")</li><li style="font-size: 11px">http://loinc.org#LA6707-9 ("Hemizygous")</li></ul><a name="opt-item./81251-1/53037-8"> </a><p><b>Answer options for /81251-1/53037-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6668-3 ("Pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26332-9 ("Likely pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26333-7 ("Uncertain significance")</li><li style="font-size: 11px">http://loinc.org#LA26334-5 ("Likely benign")</li><li style="font-size: 11px">http://loinc.org#LA6675-8 ("Benign")</li></ul><a name="opt-item./81251-1/53034-5"> </a><p><b>Answer options for /81251-1/53034-5 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6703-8 ("Heteroplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6704-6 ("Homoplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6705-3 ("Homozygous")</li><li style="font-size: 11px">http://loinc.org#LA6706-1 ("Heterozygous")</li><li style="font-size: 11px">http://loinc.org#LA6707-9 ("Hemizygous")</li></ul><a name="opt-item./81251-1/82309-6"> </a><p><b>Answer options for /81251-1/82309-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26426-9 ("Directly measured")</li><li style="font-size: 11px">http://loinc.org#LA26427-7 ("Family DNA")</li><li style="font-size: 11px">http://loinc.org#LA26428-5 ("Family history")</li><li style="font-size: 11px">http://loinc.org#LA26429-3 ("Inferred from population data")</li></ul><a name="opt-item./81251-1/81250-3/83005-9"> </a><p><b>Answer options for /81251-1/81250-3/83005-9 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26801-3 ("Simple variant")</li><li style="font-size: 11px">http://loinc.org#LA26802-1 ("Structural variant")</li></ul><a name="opt-item./81251-1/81250-3/48019-4"> </a><p><b>Answer options for /81251-1/81250-3/48019-4 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9658-1 ("Wild type")</li><li style="font-size: 11px">http://loinc.org#LA6692-3 ("Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6686-5 ("Duplication")</li><li style="font-size: 11px">http://loinc.org#LA6687-3 ("Insertion")</li><li style="font-size: 11px">http://loinc.org#LA6688-1 ("Insertion/Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6689-9 ("Inversion")</li><li style="font-size: 11px">http://loinc.org#LA6690-7 ("Substitution")</li><li style="font-size: 11px">http://loinc.org#LA14033-7 ("Copy number gain")</li><li style="font-size: 11px">http://loinc.org#LA14034-5 ("Copy number loss")</li><li style="font-size: 11px">http://loinc.org#LA26324-6 ("Mobile element insertion")</li><li style="font-size: 11px">http://loinc.org#LA26325-3 ("Novel sequence insertion")</li><li style="font-size: 11px">http://loinc.org#LA26326-1 ("Tandem duplication")</li><li style="font-size: 11px">http://loinc.org#LA26327-9 ("Intrachromosomal breakpoint")</li><li style="font-size: 11px">http://loinc.org#LA26328-7 ("Interchromosomal breakpoint")</li><li style="font-size: 11px">http://loinc.org#LA26331-1 ("Translocation")</li><li style="font-size: 11px">http://loinc.org#LA26330-3 ("Complex")</li><li style="font-size: 11px">http://loinc.org#LA26329-5 ("Sequence alteration")</li></ul><a name="opt-item./81251-1/81250-3/48006-1"> </a><p><b>Answer options for /81251-1/81250-3/48006-1 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9658-1 ("Wild type")</li><li style="font-size: 11px">http://loinc.org#LA6692-3 ("Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6686-5 ("Duplication")</li><li style="font-size: 11px">http://loinc.org#LA6694-9 ("Frameshift")</li><li style="font-size: 11px">http://loinc.org#LA6695-6 ("Initiating Methionine")</li><li style="font-size: 11px">http://loinc.org#LA6687-3 ("Insertion")</li><li style="font-size: 11px">http://loinc.org#LA9659-9 ("Insertion and Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6698-0 ("Missense")</li><li style="font-size: 11px">http://loinc.org#LA6699-8 ("Nonsense")</li><li style="font-size: 11px">http://loinc.org#LA6700-4 ("Silent")</li><li style="font-size: 11px">http://loinc.org#LA6701-2 ("Stop Codon Mutation")</li></ul><a name="opt-item./81251-1/81250-3/48002-0"> </a><p><b>Answer options for /81251-1/81250-3/48002-0 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6683-2 ("Germline")</li><li style="font-size: 11px">http://loinc.org#LA6684-0 ("Somatic")</li><li style="font-size: 11px">http://loinc.org#LA10429-1 ("Fetal")</li><li style="font-size: 11px">http://loinc.org#LA18194-3 ("Likely germline")</li><li style="font-size: 11px">http://loinc.org#LA18195-0 ("Likely somatic")</li><li style="font-size: 11px">http://loinc.org#LA18196-8 ("Likely fetal")</li><li style="font-size: 11px">http://loinc.org#LA18197-6 ("Unknown genomic origin")</li><li style="font-size: 11px">http://loinc.org#LA26807-0 ("De novo")</li></ul><a name="opt-item./81251-1/81250-3/81304-8"> </a><p><b>Answer options for /81251-1/81250-3/81304-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26398-0 ("Sequencing")</li><li style="font-size: 11px">http://loinc.org#LA26399-8 ("Oligo aCGH")</li><li style="font-size: 11px">http://loinc.org#LA26400-4 ("SNP array")</li><li style="font-size: 11px">http://loinc.org#LA26401-2 ("BAC aCGH")</li><li style="font-size: 11px">http://loinc.org#LA26402-0 ("Curated")</li><li style="font-size: 11px">http://loinc.org#LA26403-8 ("Digital array")</li><li style="font-size: 11px">http://loinc.org#LA26404-6 ("FISH")</li><li style="font-size: 11px">http://loinc.org#LA26405-3 ("Gene expression array")</li><li style="font-size: 11px">http://loinc.org#LA26406-1 ("Karyotyping")</li><li style="font-size: 11px">http://loinc.org#LA26407-9 ("MAPH")</li><li style="font-size: 11px">http://loinc.org#LA26408-7 ("MALDI-TOF")</li><li style="font-size: 11px">http://loinc.org#LA26808-8 ("Merging")</li><li style="font-size: 11px">http://loinc.org#LA26414-5 ("Multiple complete digestion")</li><li style="font-size: 11px">http://loinc.org#LA26415-2 ("MLPA")</li><li style="font-size: 11px">http://loinc.org#LA26417-8 ("Optical mapping")</li><li style="font-size: 11px">http://loinc.org#LA26418-6 ("PCR")</li><li style="font-size: 11px">http://loinc.org#LA26419-4 ("qPCR (real-time PCR)")</li><li style="font-size: 11px">http://loinc.org#LA26420-2 ("ROMA")</li><li style="font-size: 11px">http://loinc.org#LA26809-6 ("Denaturing high-pressure liquid chromatography (DHPLC)")</li><li style="font-size: 11px">http://loinc.org#LA26810-4 ("DNA hybridization")</li><li style="font-size: 11px">http://loinc.org#LA26811-2 ("Computational analysis")</li><li style="font-size: 11px">http://loinc.org#LA26812-0 ("Single-stranded conformational polymorphism (SSCP)")</li><li style="font-size: 11px">http://loinc.org#LA26813-8 ("Restriction fragment length polymorphism (RFLP)")</li></ul><a name="opt-item./81251-1/81250-3/53037-8"> </a><p><b>Answer options for /81251-1/81250-3/53037-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6668-3 ("Pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26332-9 ("Likely pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26333-7 ("Uncertain significance")</li><li style="font-size: 11px">http://loinc.org#LA26334-5 ("Likely benign")</li><li style="font-size: 11px">http://loinc.org#LA6675-8 ("Benign")</li></ul><a name="opt-item./81251-1/81250-3/69548-6"> </a><p><b>Answer options for /81251-1/81250-3/69548-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9633-4 ("Present")</li><li style="font-size: 11px">http://loinc.org#LA9634-2 ("Absent")</li><li style="font-size: 11px">http://loinc.org#LA18198-4 ("No call")</li><li style="font-size: 11px">http://loinc.org#LA11884-6 ("Indeterminate")</li></ul><a name="opt-item./81251-1/81250-3/53034-5"> </a><p><b>Answer options for /81251-1/81250-3/53034-5 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6703-8 ("Heteroplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6704-6 ("Homoplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6705-3 ("Homozygous")</li><li style="font-size: 11px">http://loinc.org#LA6706-1 ("Heterozygous")</li><li style="font-size: 11px">http://loinc.org#LA6707-9 ("Hemizygous")</li></ul><a name="opt-item./81251-1/81250-3/82120-7"> </a><p><b>Answer options for /81251-1/81250-3/82120-7 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26814-6 ("1st set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26815-3 ("2nd set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26816-1 ("3rd set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26817-9 ("4th set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26818-7 ("5th set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26320-4 ("Maternal")</li><li style="font-size: 11px">http://loinc.org#LA26321-2 ("Paternal")</li><li style="font-size: 11px">http://loinc.org#LA4489-6 ("Unknown")</li><li style="font-size: 11px">http://loinc.org#LA46-8 ("Other")</li></ul><a name="opt-item./81251-1/81250-3/82309-6"> </a><p><b>Answer options for /81251-1/81250-3/82309-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26426-9 ("Directly measured")</li><li style="font-size: 11px">http://loinc.org#LA26427-7 ("Family DNA")</li><li style="font-size: 11px">http://loinc.org#LA26428-5 ("Family history")</li><li style="font-size: 11px">http://loinc.org#LA26429-3 ("Inferred from population data")</li></ul><a name="opt-item./82118-1/53040-2"> </a><p><b>Answer options for /82118-1/53040-2 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA10315-2 ("Ultrarapid metabolizer")</li><li style="font-size: 11px">http://loinc.org#LA25390-8 ("Rapid metabolizer")</li><li style="font-size: 11px">http://loinc.org#LA25391-6 ("Normal metabolizer")</li><li style="font-size: 11px">http://loinc.org#LA10317-8 ("Intermediate metabolizer")</li><li style="font-size: 11px">http://loinc.org#LA9657-3 ("Poor metabolizer")</li></ul><a name="opt-item./82118-1/51961-1"> </a><p><b>Answer options for /82118-1/51961-1 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6676-6 ("Resistant")</li><li style="font-size: 11px">http://loinc.org#LA6677-4 ("Responsive")</li><li style="font-size: 11px">http://loinc.org#LA9660-7 ("Presumed resistant")</li><li style="font-size: 11px">http://loinc.org#LA9661-5 ("Presumed responsive")</li><li style="font-size: 11px">http://loinc.org#LA6682-4 ("Unknown Significance")</li><li style="font-size: 11px">http://loinc.org#LA6675-8 ("Benign")</li><li style="font-size: 11px">http://loinc.org#LA6674-1 ("Presumed Benign")</li><li style="font-size: 11px">http://loinc.org#LA9662-3 ("Presumed non-responsive")</li></ul><a name="opt-item./82118-1/83009-1"> </a><p><b>Answer options for /82118-1/83009-1 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA19542-2 ("Low risk")</li><li style="font-size: 11px">http://loinc.org#LA19541-4 ("High risk")</li></ul><a name="opt-item./82118-1/82117-3/82116-5"> </a><p><b>Answer options for /82118-1/82117-3/82116-5 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26421-0 ("Consider alternative medication")</li><li style="font-size: 11px">http://loinc.org#LA26422-8 ("Decrease dose")</li><li style="font-size: 11px">http://loinc.org#LA26423-6 ("Increase dose")</li><li style="font-size: 11px">http://loinc.org#LA26424-4 ("Use caution")</li><li style="font-size: 11px">http://loinc.org#LA26425-1 ("Normal response expected")</li></ul><a name="opt-item./83011-7/81250-3/83005-9"> </a><p><b>Answer options for /83011-7/81250-3/83005-9 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26801-3 ("Simple variant")</li><li style="font-size: 11px">http://loinc.org#LA26802-1 ("Structural variant")</li></ul><a name="opt-item./83011-7/81250-3/48019-4"> </a><p><b>Answer options for /83011-7/81250-3/48019-4 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9658-1 ("Wild type")</li><li style="font-size: 11px">http://loinc.org#LA6692-3 ("Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6686-5 ("Duplication")</li><li style="font-size: 11px">http://loinc.org#LA6687-3 ("Insertion")</li><li style="font-size: 11px">http://loinc.org#LA6688-1 ("Insertion/Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6689-9 ("Inversion")</li><li style="font-size: 11px">http://loinc.org#LA6690-7 ("Substitution")</li><li style="font-size: 11px">http://loinc.org#LA14033-7 ("Copy number gain")</li><li style="font-size: 11px">http://loinc.org#LA14034-5 ("Copy number loss")</li><li style="font-size: 11px">http://loinc.org#LA26324-6 ("Mobile element insertion")</li><li style="font-size: 11px">http://loinc.org#LA26325-3 ("Novel sequence insertion")</li><li style="font-size: 11px">http://loinc.org#LA26326-1 ("Tandem duplication")</li><li style="font-size: 11px">http://loinc.org#LA26327-9 ("Intrachromosomal breakpoint")</li><li style="font-size: 11px">http://loinc.org#LA26328-7 ("Interchromosomal breakpoint")</li><li style="font-size: 11px">http://loinc.org#LA26331-1 ("Translocation")</li><li style="font-size: 11px">http://loinc.org#LA26330-3 ("Complex")</li><li style="font-size: 11px">http://loinc.org#LA26329-5 ("Sequence alteration")</li></ul><a name="opt-item./83011-7/81250-3/48006-1"> </a><p><b>Answer options for /83011-7/81250-3/48006-1 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9658-1 ("Wild type")</li><li style="font-size: 11px">http://loinc.org#LA6692-3 ("Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6686-5 ("Duplication")</li><li style="font-size: 11px">http://loinc.org#LA6694-9 ("Frameshift")</li><li style="font-size: 11px">http://loinc.org#LA6695-6 ("Initiating Methionine")</li><li style="font-size: 11px">http://loinc.org#LA6687-3 ("Insertion")</li><li style="font-size: 11px">http://loinc.org#LA9659-9 ("Insertion and Deletion")</li><li style="font-size: 11px">http://loinc.org#LA6698-0 ("Missense")</li><li style="font-size: 11px">http://loinc.org#LA6699-8 ("Nonsense")</li><li style="font-size: 11px">http://loinc.org#LA6700-4 ("Silent")</li><li style="font-size: 11px">http://loinc.org#LA6701-2 ("Stop Codon Mutation")</li></ul><a name="opt-item./83011-7/81250-3/48002-0"> </a><p><b>Answer options for /83011-7/81250-3/48002-0 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6683-2 ("Germline")</li><li style="font-size: 11px">http://loinc.org#LA6684-0 ("Somatic")</li><li style="font-size: 11px">http://loinc.org#LA10429-1 ("Fetal")</li><li style="font-size: 11px">http://loinc.org#LA18194-3 ("Likely germline")</li><li style="font-size: 11px">http://loinc.org#LA18195-0 ("Likely somatic")</li><li style="font-size: 11px">http://loinc.org#LA18196-8 ("Likely fetal")</li><li style="font-size: 11px">http://loinc.org#LA18197-6 ("Unknown genomic origin")</li><li style="font-size: 11px">http://loinc.org#LA26807-0 ("De novo")</li></ul><a name="opt-item./83011-7/81250-3/81304-8"> </a><p><b>Answer options for /83011-7/81250-3/81304-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26398-0 ("Sequencing")</li><li style="font-size: 11px">http://loinc.org#LA26399-8 ("Oligo aCGH")</li><li style="font-size: 11px">http://loinc.org#LA26400-4 ("SNP array")</li><li style="font-size: 11px">http://loinc.org#LA26401-2 ("BAC aCGH")</li><li style="font-size: 11px">http://loinc.org#LA26402-0 ("Curated")</li><li style="font-size: 11px">http://loinc.org#LA26403-8 ("Digital array")</li><li style="font-size: 11px">http://loinc.org#LA26404-6 ("FISH")</li><li style="font-size: 11px">http://loinc.org#LA26405-3 ("Gene expression array")</li><li style="font-size: 11px">http://loinc.org#LA26406-1 ("Karyotyping")</li><li style="font-size: 11px">http://loinc.org#LA26407-9 ("MAPH")</li><li style="font-size: 11px">http://loinc.org#LA26408-7 ("MALDI-TOF")</li><li style="font-size: 11px">http://loinc.org#LA26808-8 ("Merging")</li><li style="font-size: 11px">http://loinc.org#LA26414-5 ("Multiple complete digestion")</li><li style="font-size: 11px">http://loinc.org#LA26415-2 ("MLPA")</li><li style="font-size: 11px">http://loinc.org#LA26417-8 ("Optical mapping")</li><li style="font-size: 11px">http://loinc.org#LA26418-6 ("PCR")</li><li style="font-size: 11px">http://loinc.org#LA26419-4 ("qPCR (real-time PCR)")</li><li style="font-size: 11px">http://loinc.org#LA26420-2 ("ROMA")</li><li style="font-size: 11px">http://loinc.org#LA26809-6 ("Denaturing high-pressure liquid chromatography (DHPLC)")</li><li style="font-size: 11px">http://loinc.org#LA26810-4 ("DNA hybridization")</li><li style="font-size: 11px">http://loinc.org#LA26811-2 ("Computational analysis")</li><li style="font-size: 11px">http://loinc.org#LA26812-0 ("Single-stranded conformational polymorphism (SSCP)")</li><li style="font-size: 11px">http://loinc.org#LA26813-8 ("Restriction fragment length polymorphism (RFLP)")</li></ul><a name="opt-item./83011-7/81250-3/53037-8"> </a><p><b>Answer options for /83011-7/81250-3/53037-8 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6668-3 ("Pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26332-9 ("Likely pathogenic")</li><li style="font-size: 11px">http://loinc.org#LA26333-7 ("Uncertain significance")</li><li style="font-size: 11px">http://loinc.org#LA26334-5 ("Likely benign")</li><li style="font-size: 11px">http://loinc.org#LA6675-8 ("Benign")</li></ul><a name="opt-item./83011-7/81250-3/69548-6"> </a><p><b>Answer options for /83011-7/81250-3/69548-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA9633-4 ("Present")</li><li style="font-size: 11px">http://loinc.org#LA9634-2 ("Absent")</li><li style="font-size: 11px">http://loinc.org#LA18198-4 ("No call")</li><li style="font-size: 11px">http://loinc.org#LA11884-6 ("Indeterminate")</li></ul><a name="opt-item./83011-7/81250-3/53034-5"> </a><p><b>Answer options for /83011-7/81250-3/53034-5 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA6703-8 ("Heteroplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6704-6 ("Homoplasmic")</li><li style="font-size: 11px">http://loinc.org#LA6705-3 ("Homozygous")</li><li style="font-size: 11px">http://loinc.org#LA6706-1 ("Heterozygous")</li><li style="font-size: 11px">http://loinc.org#LA6707-9 ("Hemizygous")</li></ul><a name="opt-item./83011-7/81250-3/82120-7"> </a><p><b>Answer options for /83011-7/81250-3/82120-7 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26814-6 ("1st set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26815-3 ("2nd set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26816-1 ("3rd set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26817-9 ("4th set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26818-7 ("5th set of variants in cis relation to each other")</li><li style="font-size: 11px">http://loinc.org#LA26320-4 ("Maternal")</li><li style="font-size: 11px">http://loinc.org#LA26321-2 ("Paternal")</li><li style="font-size: 11px">http://loinc.org#LA4489-6 ("Unknown")</li><li style="font-size: 11px">http://loinc.org#LA46-8 ("Other")</li></ul><a name="opt-item./83011-7/81250-3/82309-6"> </a><p><b>Answer options for /83011-7/81250-3/82309-6 </b></p><ul><li style="font-size: 11px">http://loinc.org#LA26426-9 ("Directly measured")</li><li style="font-size: 11px">http://loinc.org#LA26427-7 ("Family DNA")</li><li style="font-size: 11px">http://loinc.org#LA26428-5 ("Family history")</li><li style="font-size: 11px">http://loinc.org#LA26429-3 ("Inferred from population data")</li></ul></div>
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<linkId value="/81306-3/81293-3-help"/>
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<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9663-1"/>
<display value="Inconclusive"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9664-9"/>
<display value="Failure"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/51968-6-help"/>
<text
value="Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/83006-7"/>
<code>
<system value="http://loinc.org"/>
<code value="83006-7"/>
<display value="Del-dup interp Patient-Imp"/>
</code>
<text value="Del-dup interp Patient-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26803-9"/>
<display
value="No deletion or duplication detected in studied region"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26804-7"/>
<display
value="Deletion and/or duplication detected in studied regions"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9663-1"/>
<display value="Inconclusive"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/81306-3/51969-4"/>
<code>
<system value="http://loinc.org"/>
<code value="51969-4"/>
<display value="Gene analysis narr rpt Doc"/>
</code>
<text value="Gene analysis narr rpt Doc"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/51969-4-help"/>
<text value="Narative report in disease diagnostic-based format."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81306-3/81291-7"/>
<code>
<system value="http://loinc.org"/>
<code value="81291-7"/>
<display value="Struct var ISCN name"/>
</code>
<text value="Struct var ISCN name"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/81291-7-help"/>
<text
value="ISCN is a syntax for describing cytogenetic findings, from classical karyotypes to details that can be observed with copy number methodologies. Using ISCN nomenclature is highly recommended for reporting structural variants."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/62374-4"/>
<code>
<system value="http://loinc.org"/>
<code value="62374-4"/>
<display value="Human ref seq assembly+build"/>
</code>
<text value="Human ref seq assembly+build"/>
<type value="choice"/>
<answerOption>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-optionPrefix">
<valueString value="34"/>
</extension>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14032-9"/>
<display value="NCBI Build 34"/>
</valueCoding>
</answerOption>
<answerOption>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-optionPrefix">
<valueString value="GRCh37"/>
</extension>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14029-5"/>
<display value="GRCh37"/>
</valueCoding>
</answerOption>
<answerOption>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-optionPrefix">
<valueString value="36.1"/>
</extension>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14030-3"/>
<display value="NCBI Build 36.1"/>
</valueCoding>
</answerOption>
<answerOption>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-optionPrefix">
<valueString value="35"/>
</extension>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14031-1"/>
<display value="NCBI Build 35"/>
</valueCoding>
</answerOption>
<answerOption>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-optionPrefix">
<valueString value="GRCh38"/>
</extension>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26806-2"/>
<display value="GRCh38"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/62374-4-help"/>
<text value="The NCBI build id for human genome assemblies."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81306-3/81303-0"/>
<code>
<system value="http://loinc.org"/>
<code value="81303-0"/>
<display value="HGVS version"/>
</code>
<text value="HGVS version"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81306-3/81303-0-help"/>
<text
value="Report the version of HGVS used for all observations specified using HGVS nomenclature. Any change in the HGVS recommendations will get a new version number based on the date of the change. The format for reporting the HGVS version used is: <version #>.<date produced in YYMMDD format>, for example, 2.120831."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81306-3/82115-7"/>
<code>
<system value="http://loinc.org"/>
<code value="82115-7"/>
<display value="dbSNP version"/>
</code>
<text value="dbSNP version"/>
<type value="string"/>
</item>
<item>
<linkId value="/81306-3/83007-5"/>
<code>
<system value="http://loinc.org"/>
<code value="83007-5"/>
<display value="COSMIC version"/>
</code>
<text value="COSMIC version"/>
<type value="string"/>
</item>
<item>
<linkId value="/81306-3/83008-3"/>
<code>
<system value="http://loinc.org"/>
<code value="83008-3"/>
<display value="ClinVar version"/>
</code>
<text value="ClinVar version"/>
<type value="string"/>
</item>
</item>
<item>
<linkId value="/81250-3"/>
<code>
<system value="http://loinc.org"/>
<code value="81250-3"/>
<display value="Simple var pnl"/>
</code>
<text value="Simple var pnl"/>
<type value="group"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/83005-9"/>
<code>
<system value="http://loinc.org"/>
<code value="83005-9"/>
<display value="Variant category"/>
</code>
<text value="Variant category"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26801-3"/>
<display value="Simple variant"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26802-1"/>
<display value="Structural variant"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/81250-3/81252-9"/>
<code>
<system value="http://loinc.org"/>
<code value="81252-9"/>
<display value="Simple var ID"/>
</code>
<text value="Simple var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81252-9-help"/>
<text
value="This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/48018-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied ID"/>
</code>
<text value="Gene studied ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48018-6-help"/>
<text
value="HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/51958-7"/>
<code>
<system value="http://loinc.org"/>
<code value="51958-7"/>
<display value="Transcript ref sequence ID"/>
</code>
<text value="Transcript ref sequence ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/51958-7-help"/>
<text
value="This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript)."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/48004-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change"/>
</code>
<text value="DNA change"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48004-6-help"/>
<text
value="Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/48005-3"/>
<code>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change"/>
</code>
<text value="Amino acid change"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48005-3-help"/>
<text
value="Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48019-4"/>
<code>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA Change Type"/>
</code>
<text value="DNA Change Type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9658-1"/>
<display value="Wild type"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
<display value="Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6687-3"/>
<display value="Insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6688-1"/>
<display value="Insertion/Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6689-9"/>
<display value="Inversion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6690-7"/>
<display value="Substitution"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14033-7"/>
<display value="Copy number gain"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14034-5"/>
<display value="Copy number loss"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26324-6"/>
<display value="Mobile element insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26325-3"/>
<display value="Novel sequence insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26326-1"/>
<display value="Tandem duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26327-9"/>
<display value="Intrachromosomal breakpoint"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26328-7"/>
<display value="Interchromosomal breakpoint"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26331-1"/>
<display value="Translocation"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26330-3"/>
<display value="Complex"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26329-5"/>
<display value="Sequence alteration"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48019-4-help"/>
<text
value="Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48006-1"/>
<code>
<system value="http://loinc.org"/>
<code value="48006-1"/>
<display value="Amino acid change type"/>
</code>
<text value="Amino acid change type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9658-1"/>
<display value="Wild type"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
<display value="Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6694-9"/>
<display value="Frameshift"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6695-6"/>
<display value="Initiating Methionine"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6687-3"/>
<display value="Insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9659-9"/>
<display value="Insertion and Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6698-0"/>
<display value="Missense"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6699-8"/>
<display value="Nonsense"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6700-4"/>
<display value="Silent"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6701-2"/>
<display value="Stop Codon Mutation"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48006-1-help"/>
<text
value="Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/48013-7"/>
<code>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence ID"/>
</code>
<text value="Genomic reference sequence ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48013-7-help"/>
<text
value="This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/81290-9"/>
<code>
<system value="http://loinc.org"/>
<code value="81290-9"/>
<display value="Struct var HGVS name"/>
</code>
<text value="Struct var HGVS name"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81290-9-help"/>
<text
value="The name of a structural variant reported using HGVS nomenclature."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/69547-8"/>
<code>
<system value="http://loinc.org"/>
<code value="69547-8"/>
<display value="Ref nucleotide"/>
</code>
<text value="Ref nucleotide"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/69547-8-help"/>
<text
value="Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/81254-5"/>
<code>
<system value="http://loinc.org"/>
<code value="81254-5"/>
<display value="Gen allele loc ID"/>
</code>
<text value="Gen allele loc ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81254-5-help"/>
<text
value="The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/69551-0"/>
<code>
<system value="http://loinc.org"/>
<code value="69551-0"/>
<display value="Alt allele"/>
</code>
<text value="Alt allele"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/69551-0-help"/>
<text
value="The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/84414-2"/>
<code>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name Bld/T"/>
</code>
<text value="Haplotype name Bld/T"/>
<type value="string"/>
</item>
<item>
<linkId value="/81250-3/81255-2"/>
<code>
<system value="http://loinc.org"/>
<code value="81255-2"/>
<display value="dbSNP ID"/>
</code>
<text value="dbSNP ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81255-2-help"/>
<text
value="The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/81257-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81257-8"/>
<display value="CIGAR var ID"/>
</code>
<text value="CIGAR var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81257-8-help"/>
<text
value="This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/48001-2"/>
<code>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cyto loc ID"/>
</code>
<text value="Cyto loc ID"/>
<type value="string"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48002-0"/>
<code>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class"/>
</code>
<text value="Genomic source class"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6683-2"/>
<display value="Germline"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6684-0"/>
<display value="Somatic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA10429-1"/>
<display value="Fetal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18194-3"/>
<display value="Likely germline"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18195-0"/>
<display value="Likely somatic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18196-8"/>
<display value="Likely fetal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18197-6"/>
<display value="Unknown genomic origin"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26807-0"/>
<display value="De novo"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/48002-0-help"/>
<text
value="The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81304-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81304-8"/>
<display value="Struct var analysis method"/>
</code>
<text value="Struct var analysis method"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26399-8"/>
<display value="Oligo aCGH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26400-4"/>
<display value="SNP array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26401-2"/>
<display value="BAC aCGH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26402-0"/>
<display value="Curated"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26403-8"/>
<display value="Digital array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26404-6"/>
<display value="FISH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26405-3"/>
<display value="Gene expression array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26406-1"/>
<display value="Karyotyping"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26407-9"/>
<display value="MAPH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26408-7"/>
<display value="MALDI-TOF"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26808-8"/>
<display value="Merging"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26414-5"/>
<display value="Multiple complete digestion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26415-2"/>
<display value="MLPA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26417-8"/>
<display value="Optical mapping"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26418-6"/>
<display value="PCR"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26419-4"/>
<display value="qPCR (real-time PCR)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26420-2"/>
<display value="ROMA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26809-6"/>
<display
value="Denaturing high-pressure liquid chromatography (DHPLC)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26810-4"/>
<display value="DNA hybridization"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26811-2"/>
<display value="Computational analysis"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26812-0"/>
<display
value="Single-stranded conformational polymorphism (SSCP)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26813-8"/>
<display value="Restriction fragment length polymorphism (RFLP)"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81304-8-help"/>
<text
value="The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/53037-8"/>
<code>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Gene dis seq var interp-Imp"/>
</code>
<text value="Gene dis seq var interp-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26332-9"/>
<display value="Likely pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26333-7"/>
<display value="Uncertain significance"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26334-5"/>
<display value="Likely benign"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6675-8"/>
<display value="Benign"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/53037-8-help"/>
<text
value="Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/69548-6"/>
<code>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic var assess"/>
</code>
<text value="Genetic var assess"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9634-2"/>
<display value="Absent"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18198-4"/>
<display value="No call"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA11884-6"/>
<display value="Indeterminate"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/69548-6-help"/>
<text
value="Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81250-3/81259-4"/>
<code>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Prob assoc phenotype"/>
</code>
<text value="Prob assoc phenotype"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81259-4-help"/>
<text
value="The possible phenotype associated with the genetic variant found in this study."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/53034-5"/>
<code>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</code>
<text value="Allelic state"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6703-8"/>
<display value="Heteroplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6704-6"/>
<display value="Homoplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6705-3"/>
<display value="Homozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6707-9"/>
<display value="Hemizygous"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/53034-5-help"/>
<text
value="The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
<display value="%"/>
</valueCoding>
</extension>
<linkId value="/81250-3/81258-6"/>
<code>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Sample VAF"/>
</code>
<text value="Sample VAF"/>
<type value="decimal"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/81258-6-help"/>
<text
value="The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{#}"/>
<display value="{#}"/>
</valueCoding>
</extension>
<linkId value="/81250-3/82121-5"/>
<code>
<system value="http://loinc.org"/>
<code value="82121-5"/>
<display value="Allelic read depth"/>
</code>
<text value="Allelic read depth"/>
<type value="decimal"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/82120-7"/>
<code>
<system value="http://loinc.org"/>
<code value="82120-7"/>
<display value="Allelic phase"/>
</code>
<text value="Allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26814-6"/>
<display value="1st set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26815-3"/>
<display value="2nd set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26816-1"/>
<display value="3rd set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26817-9"/>
<display value="4th set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26818-7"/>
<display value="5th set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26320-4"/>
<display value="Maternal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26321-2"/>
<display value="Paternal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA4489-6"/>
<display value="Unknown"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA46-8"/>
<display value="Other"/>
</valueCoding>
</answerOption>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3/82309-6"/>
<code>
<system value="http://loinc.org"/>
<code value="82309-6"/>
<display value="Basis allelic phase"/>
</code>
<text value="Basis allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26426-9"/>
<display value="Directly measured"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26427-7"/>
<display value="Family DNA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26428-5"/>
<display value="Family history"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26429-3"/>
<display value="Inferred from population data"/>
</valueCoding>
</answerOption>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81250-3-help"/>
<text
value="This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81297-4"/>
<code>
<system value="http://loinc.org"/>
<code value="81297-4"/>
<display value="Struct variant pnl"/>
</code>
<text value="Struct variant pnl"/>
<type value="group"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{#}"/>
<display value="{#}"/>
</valueCoding>
</extension>
<linkId value="/81297-4/82155-3"/>
<code>
<system value="http://loinc.org"/>
<code value="82155-3"/>
<display value="Gen struct var copy num"/>
</code>
<text value="Gen struct var copy num"/>
<type value="decimal"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{Ratio}"/>
<display value="{Ratio}"/>
</valueCoding>
</extension>
<linkId value="/81297-4/81299-0"/>
<code>
<system value="http://loinc.org"/>
<code value="81299-0"/>
<display value="Struct var rep arrCGH Rto"/>
</code>
<text value="Struct var rep arrCGH Rto"/>
<type value="decimal"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{#}"/>
<display value="{#}"/>
</valueCoding>
</extension>
<linkId value="/81297-4/81300-6"/>
<code>
<system value="http://loinc.org"/>
<code value="81300-6"/>
<display value="Struct var len"/>
</code>
<text value="Struct var len"/>
<type value="decimal"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81297-4/81300-6-help"/>
<text
value="Length of the structural variant, which information may be ascertained in some but not all types of structural variants."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{Range}"/>
<display value="{Range}"/>
</valueCoding>
</extension>
<linkId value="/81297-4/81301-4"/>
<code>
<system value="http://loinc.org"/>
<code value="81301-4"/>
<display value="Struct var outer start-end NumRange"/>
</code>
<text value="Struct var outer start-end NumRange"/>
<type value="decimal"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81297-4/81301-4-help"/>
<text
value="The genomic coordinates of the widest genomic range in which the variant might reside."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{Range}"/>
<display value="{Range}"/>
</valueCoding>
</extension>
<linkId value="/81297-4/81302-2"/>
<code>
<system value="http://loinc.org"/>
<code value="81302-2"/>
<display value="Struct var inner start-end NumRange"/>
</code>
<text value="Struct var inner start-end NumRange"/>
<type value="decimal"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81297-4/81302-2-help"/>
<text
value="The genomic coordinates of the narrowest genomic range in which the variant might reside."/>
<type value="display"/>
</item>
</item>
</item>
<item>
<linkId value="/81251-1"/>
<code>
<system value="http://loinc.org"/>
<code value="81251-1"/>
<display value="Comp var pnl"/>
</code>
<text value="Comp var pnl"/>
<type value="group"/>
<item>
<linkId value="/81251-1/81260-2"/>
<code>
<system value="http://loinc.org"/>
<code value="81260-2"/>
<display value="Comp var ID"/>
</code>
<text value="Comp var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81260-2-help"/>
<text
value="This term is used to report the unique identifier of the complex variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_000106.5(CYP2D6):c.[886C>T;457G>C] - Haplotype has the ClinVar ID 16895. [http://www.ncbi.nlm.nih.gov/clinvar/variation/16895/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81262-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81262-8"/>
<display value="Comp var HGVS name"/>
</code>
<text value="Comp var HGVS name"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81262-8-help"/>
<text
value="This term is used to report the name of the complex variant found in this study in HGVS format. For example, c.[886C>T;457G>C], which represents two separate base substitutions in one gene on one chromosome, or c.[886C>T];[457G>C], which represents two separate base substitutions in one gene on two different chromosomes."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81263-6"/>
<code>
<system value="http://loinc.org"/>
<code value="81263-6"/>
<display value="Comp var type"/>
</code>
<text value="Comp var type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26217-2"/>
<display value="Compound heterozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26220-6"/>
<display value="Double heterozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26218-0"/>
<display value="Haplotype"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6707-9"/>
<display value="Hemizygous"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81263-6-help"/>
<text
value="The type of complex variant, for example, compound heterozygous or haplotype."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81259-4"/>
<code>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Prob assoc phenotype"/>
</code>
<text value="Prob assoc phenotype"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81259-4-help"/>
<text
value="The possible phenotype associated with the genetic variant found in this study."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/53037-8"/>
<code>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Gene dis seq var interp-Imp"/>
</code>
<text value="Gene dis seq var interp-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26332-9"/>
<display value="Likely pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26333-7"/>
<display value="Uncertain significance"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26334-5"/>
<display value="Likely benign"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6675-8"/>
<display value="Benign"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/53037-8-help"/>
<text
value="Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/53034-5"/>
<code>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</code>
<text value="Allelic state"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6703-8"/>
<display value="Heteroplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6704-6"/>
<display value="Homoplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6705-3"/>
<display value="Homozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6707-9"/>
<display value="Hemizygous"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/53034-5-help"/>
<text
value="The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/82309-6"/>
<code>
<system value="http://loinc.org"/>
<code value="82309-6"/>
<display value="Basis allelic phase"/>
</code>
<text value="Basis allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26426-9"/>
<display value="Directly measured"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26427-7"/>
<display value="Family DNA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26428-5"/>
<display value="Family history"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26429-3"/>
<display value="Inferred from population data"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/81251-1/81250-3"/>
<code>
<system value="http://loinc.org"/>
<code value="81250-3"/>
<display value="Simple var pnl"/>
</code>
<text value="Simple var pnl"/>
<type value="group"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/83005-9"/>
<code>
<system value="http://loinc.org"/>
<code value="83005-9"/>
<display value="Variant category"/>
</code>
<text value="Variant category"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26801-3"/>
<display value="Simple variant"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26802-1"/>
<display value="Structural variant"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/81251-1/81250-3/81252-9"/>
<code>
<system value="http://loinc.org"/>
<code value="81252-9"/>
<display value="Simple var ID"/>
</code>
<text value="Simple var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81252-9-help"/>
<text
value="This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/48018-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied ID"/>
</code>
<text value="Gene studied ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48018-6-help"/>
<text
value="HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/51958-7"/>
<code>
<system value="http://loinc.org"/>
<code value="51958-7"/>
<display value="Transcript ref sequence ID"/>
</code>
<text value="Transcript ref sequence ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/51958-7-help"/>
<text
value="This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript)."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/48004-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change"/>
</code>
<text value="DNA change"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48004-6-help"/>
<text
value="Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/48005-3"/>
<code>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change"/>
</code>
<text value="Amino acid change"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48005-3-help"/>
<text
value="Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48019-4"/>
<code>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA Change Type"/>
</code>
<text value="DNA Change Type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9658-1"/>
<display value="Wild type"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
<display value="Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6687-3"/>
<display value="Insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6688-1"/>
<display value="Insertion/Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6689-9"/>
<display value="Inversion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6690-7"/>
<display value="Substitution"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14033-7"/>
<display value="Copy number gain"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14034-5"/>
<display value="Copy number loss"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26324-6"/>
<display value="Mobile element insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26325-3"/>
<display value="Novel sequence insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26326-1"/>
<display value="Tandem duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26327-9"/>
<display value="Intrachromosomal breakpoint"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26328-7"/>
<display value="Interchromosomal breakpoint"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26331-1"/>
<display value="Translocation"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26330-3"/>
<display value="Complex"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26329-5"/>
<display value="Sequence alteration"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48019-4-help"/>
<text
value="Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48006-1"/>
<code>
<system value="http://loinc.org"/>
<code value="48006-1"/>
<display value="Amino acid change type"/>
</code>
<text value="Amino acid change type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9658-1"/>
<display value="Wild type"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
<display value="Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6694-9"/>
<display value="Frameshift"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6695-6"/>
<display value="Initiating Methionine"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6687-3"/>
<display value="Insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9659-9"/>
<display value="Insertion and Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6698-0"/>
<display value="Missense"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6699-8"/>
<display value="Nonsense"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6700-4"/>
<display value="Silent"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6701-2"/>
<display value="Stop Codon Mutation"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48006-1-help"/>
<text
value="Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/48013-7"/>
<code>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence ID"/>
</code>
<text value="Genomic reference sequence ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48013-7-help"/>
<text
value="This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/81290-9"/>
<code>
<system value="http://loinc.org"/>
<code value="81290-9"/>
<display value="Struct var HGVS name"/>
</code>
<text value="Struct var HGVS name"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81290-9-help"/>
<text
value="The name of a structural variant reported using HGVS nomenclature."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/69547-8"/>
<code>
<system value="http://loinc.org"/>
<code value="69547-8"/>
<display value="Ref nucleotide"/>
</code>
<text value="Ref nucleotide"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/69547-8-help"/>
<text
value="Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/81254-5"/>
<code>
<system value="http://loinc.org"/>
<code value="81254-5"/>
<display value="Gen allele loc ID"/>
</code>
<text value="Gen allele loc ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81254-5-help"/>
<text
value="The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/69551-0"/>
<code>
<system value="http://loinc.org"/>
<code value="69551-0"/>
<display value="Alt allele"/>
</code>
<text value="Alt allele"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/69551-0-help"/>
<text
value="The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/84414-2"/>
<code>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name Bld/T"/>
</code>
<text value="Haplotype name Bld/T"/>
<type value="string"/>
</item>
<item>
<linkId value="/81251-1/81250-3/81255-2"/>
<code>
<system value="http://loinc.org"/>
<code value="81255-2"/>
<display value="dbSNP ID"/>
</code>
<text value="dbSNP ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81255-2-help"/>
<text
value="The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/81257-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81257-8"/>
<display value="CIGAR var ID"/>
</code>
<text value="CIGAR var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81257-8-help"/>
<text
value="This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/48001-2"/>
<code>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cyto loc ID"/>
</code>
<text value="Cyto loc ID"/>
<type value="string"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48002-0"/>
<code>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class"/>
</code>
<text value="Genomic source class"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6683-2"/>
<display value="Germline"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6684-0"/>
<display value="Somatic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA10429-1"/>
<display value="Fetal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18194-3"/>
<display value="Likely germline"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18195-0"/>
<display value="Likely somatic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18196-8"/>
<display value="Likely fetal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18197-6"/>
<display value="Unknown genomic origin"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26807-0"/>
<display value="De novo"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/48002-0-help"/>
<text
value="The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81304-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81304-8"/>
<display value="Struct var analysis method"/>
</code>
<text value="Struct var analysis method"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26399-8"/>
<display value="Oligo aCGH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26400-4"/>
<display value="SNP array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26401-2"/>
<display value="BAC aCGH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26402-0"/>
<display value="Curated"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26403-8"/>
<display value="Digital array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26404-6"/>
<display value="FISH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26405-3"/>
<display value="Gene expression array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26406-1"/>
<display value="Karyotyping"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26407-9"/>
<display value="MAPH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26408-7"/>
<display value="MALDI-TOF"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26808-8"/>
<display value="Merging"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26414-5"/>
<display value="Multiple complete digestion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26415-2"/>
<display value="MLPA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26417-8"/>
<display value="Optical mapping"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26418-6"/>
<display value="PCR"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26419-4"/>
<display value="qPCR (real-time PCR)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26420-2"/>
<display value="ROMA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26809-6"/>
<display
value="Denaturing high-pressure liquid chromatography (DHPLC)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26810-4"/>
<display value="DNA hybridization"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26811-2"/>
<display value="Computational analysis"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26812-0"/>
<display
value="Single-stranded conformational polymorphism (SSCP)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26813-8"/>
<display value="Restriction fragment length polymorphism (RFLP)"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81304-8-help"/>
<text
value="The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/53037-8"/>
<code>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Gene dis seq var interp-Imp"/>
</code>
<text value="Gene dis seq var interp-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26332-9"/>
<display value="Likely pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26333-7"/>
<display value="Uncertain significance"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26334-5"/>
<display value="Likely benign"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6675-8"/>
<display value="Benign"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/53037-8-help"/>
<text
value="Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/69548-6"/>
<code>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic var assess"/>
</code>
<text value="Genetic var assess"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9634-2"/>
<display value="Absent"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18198-4"/>
<display value="No call"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA11884-6"/>
<display value="Indeterminate"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/69548-6-help"/>
<text
value="Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/81251-1/81250-3/81259-4"/>
<code>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Prob assoc phenotype"/>
</code>
<text value="Prob assoc phenotype"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81259-4-help"/>
<text
value="The possible phenotype associated with the genetic variant found in this study."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/53034-5"/>
<code>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</code>
<text value="Allelic state"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6703-8"/>
<display value="Heteroplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6704-6"/>
<display value="Homoplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6705-3"/>
<display value="Homozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6707-9"/>
<display value="Hemizygous"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/53034-5-help"/>
<text
value="The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
<display value="%"/>
</valueCoding>
</extension>
<linkId value="/81251-1/81250-3/81258-6"/>
<code>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Sample VAF"/>
</code>
<text value="Sample VAF"/>
<type value="decimal"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/81258-6-help"/>
<text
value="The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{#}"/>
<display value="{#}"/>
</valueCoding>
</extension>
<linkId value="/81251-1/81250-3/82121-5"/>
<code>
<system value="http://loinc.org"/>
<code value="82121-5"/>
<display value="Allelic read depth"/>
</code>
<text value="Allelic read depth"/>
<type value="decimal"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/82120-7"/>
<code>
<system value="http://loinc.org"/>
<code value="82120-7"/>
<display value="Allelic phase"/>
</code>
<text value="Allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26814-6"/>
<display
value="1st set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26815-3"/>
<display
value="2nd set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26816-1"/>
<display
value="3rd set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26817-9"/>
<display
value="4th set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26818-7"/>
<display
value="5th set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26320-4"/>
<display value="Maternal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26321-2"/>
<display value="Paternal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA4489-6"/>
<display value="Unknown"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA46-8"/>
<display value="Other"/>
</valueCoding>
</answerOption>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3/82309-6"/>
<code>
<system value="http://loinc.org"/>
<code value="82309-6"/>
<display value="Basis allelic phase"/>
</code>
<text value="Basis allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26426-9"/>
<display value="Directly measured"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26427-7"/>
<display value="Family DNA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26428-5"/>
<display value="Family history"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26429-3"/>
<display value="Inferred from population data"/>
</valueCoding>
</answerOption>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1/81250-3-help"/>
<text
value="This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/81251-1-help"/>
<text
value="This panel is used to report information related to a complex genetic variant and includes a repeating subpanel for reporting specific information for each simple variation that the complex variant includes."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/82118-1"/>
<code>
<system value="http://loinc.org"/>
<code value="82118-1"/>
<display value="Pharmg result pnl"/>
</code>
<text value="Pharmg result pnl"/>
<type value="group"/>
<item>
<linkId value="/82118-1/48018-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied ID"/>
</code>
<text value="Gene studied ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/48018-6-help"/>
<text
value="HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/82118-1/84413-4"/>
<code>
<system value="http://loinc.org"/>
<code value="84413-4"/>
<display value="Genotype name Patient"/>
</code>
<text value="Genotype name Patient"/>
<type value="string"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/53040-2"/>
<code>
<system value="http://loinc.org"/>
<code value="53040-2"/>
<display value="Drug metab seq var interp-Imp"/>
</code>
<text value="Drug metab seq var interp-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA10315-2"/>
<display value="Ultrarapid metabolizer"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA25390-8"/>
<display value="Rapid metabolizer"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA25391-6"/>
<display value="Normal metabolizer"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA10317-8"/>
<display value="Intermediate metabolizer"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9657-3"/>
<display value="Poor metabolizer"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/53040-2-help"/>
<text
value="Predicted phenotype for drug efficacy. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC). The previous answer list number was LL609-9, and three of the answer strings and LA codes are the same in the new list (ultrarapid metabolizer, intermediate metabolizer, and poor metabolizer). In the new answer list, the extensive metabolizer answer (LA10316-0) from LL609-9 has been replaced with two new answers (rapid metabolizer, normal metabolizer). LA10316-0 is still a valid LA code for the "extensive metabolizer" answer string."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/51961-1"/>
<code>
<system value="http://loinc.org"/>
<code value="51961-1"/>
<display value="Drug eff seq var interp-Imp"/>
</code>
<text value="Drug eff seq var interp-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6676-6"/>
<display value="Resistant"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6677-4"/>
<display value="Responsive"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9660-7"/>
<display value="Presumed resistant"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9661-5"/>
<display value="Presumed responsive"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6682-4"/>
<display value="Unknown Significance"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6675-8"/>
<display value="Benign"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6674-1"/>
<display value="Presumed Benign"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9662-3"/>
<display value="Presumed non-responsive"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/51961-1-help"/>
<text
value="Predicted phenotype for ability of drug to bind to intended site in order to deliver intended affect. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/83009-1"/>
<code>
<system value="http://loinc.org"/>
<code value="83009-1"/>
<display value="Genetic var eff high-risk allele"/>
</code>
<text value="Genetic var eff high-risk allele"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA19542-2"/>
<display value="Low risk"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA19541-4"/>
<display value="High risk"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/82118-1/82117-3"/>
<code>
<system value="http://loinc.org"/>
<code value="82117-3"/>
<display value="Med usage impl pnl"/>
</code>
<text value="Med usage impl pnl"/>
<type value="group"/>
<item>
<linkId value="/82118-1/82117-3/51963-7"/>
<code>
<system value="http://loinc.org"/>
<code value="51963-7"/>
<display value="Medication assessed"/>
</code>
<text value="Medication assessed"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/82117-3/51963-7-help"/>
<text
value="A coded medication assessed in a pharmacogenic test (recommend RxNorm)"/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/82118-1/82117-3/82116-5"/>
<code>
<system value="http://loinc.org"/>
<code value="82116-5"/>
<display value="Med usage sugg"/>
</code>
<text value="Med usage sugg"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26421-0"/>
<display value="Consider alternative medication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26422-8"/>
<display value="Decrease dose"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26423-6"/>
<display value="Increase dose"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26424-4"/>
<display value="Use caution"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26425-1"/>
<display value="Normal response expected"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/82118-1/82117-3/83010-9"/>
<code>
<system value="http://loinc.org"/>
<code value="83010-9"/>
<display value="Med usage sugg Patient-Imp"/>
</code>
<text value="Med usage sugg Patient-Imp"/>
<type value="string"/>
</item>
</item>
</item>
<item>
<linkId value="/83011-7"/>
<code>
<system value="http://loinc.org"/>
<code value="83011-7"/>
<display value="Haplotype definition Pnl"/>
</code>
<text value="Haplotype definition Pnl"/>
<type value="group"/>
<item>
<linkId value="/83011-7/48018-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied ID"/>
</code>
<text value="Gene studied ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/48018-6-help"/>
<text
value="HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/84414-2"/>
<code>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name Bld/T"/>
</code>
<text value="Haplotype name Bld/T"/>
<type value="string"/>
</item>
<item>
<linkId value="/83011-7/81250-3"/>
<code>
<system value="http://loinc.org"/>
<code value="81250-3"/>
<display value="Simple var pnl"/>
</code>
<text value="Simple var pnl"/>
<type value="group"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/83005-9"/>
<code>
<system value="http://loinc.org"/>
<code value="83005-9"/>
<display value="Variant category"/>
</code>
<text value="Variant category"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26801-3"/>
<display value="Simple variant"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26802-1"/>
<display value="Structural variant"/>
</valueCoding>
</answerOption>
</item>
<item>
<linkId value="/83011-7/81250-3/81252-9"/>
<code>
<system value="http://loinc.org"/>
<code value="81252-9"/>
<display value="Simple var ID"/>
</code>
<text value="Simple var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81252-9-help"/>
<text
value="This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/48018-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48018-6"/>
<display value="Gene studied ID"/>
</code>
<text value="Gene studied ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48018-6-help"/>
<text
value="HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/51958-7"/>
<code>
<system value="http://loinc.org"/>
<code value="51958-7"/>
<display value="Transcript ref sequence ID"/>
</code>
<text value="Transcript ref sequence ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/51958-7-help"/>
<text
value="This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript)."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/48004-6"/>
<code>
<system value="http://loinc.org"/>
<code value="48004-6"/>
<display value="DNA change"/>
</code>
<text value="DNA change"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48004-6-help"/>
<text
value="Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/48005-3"/>
<code>
<system value="http://loinc.org"/>
<code value="48005-3"/>
<display value="Amino acid change"/>
</code>
<text value="Amino acid change"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48005-3-help"/>
<text
value="Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48019-4"/>
<code>
<system value="http://loinc.org"/>
<code value="48019-4"/>
<display value="DNA Change Type"/>
</code>
<text value="DNA Change Type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9658-1"/>
<display value="Wild type"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
<display value="Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6687-3"/>
<display value="Insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6688-1"/>
<display value="Insertion/Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6689-9"/>
<display value="Inversion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6690-7"/>
<display value="Substitution"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14033-7"/>
<display value="Copy number gain"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA14034-5"/>
<display value="Copy number loss"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26324-6"/>
<display value="Mobile element insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26325-3"/>
<display value="Novel sequence insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26326-1"/>
<display value="Tandem duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26327-9"/>
<display value="Intrachromosomal breakpoint"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26328-7"/>
<display value="Interchromosomal breakpoint"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26331-1"/>
<display value="Translocation"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26330-3"/>
<display value="Complex"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26329-5"/>
<display value="Sequence alteration"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48019-4-help"/>
<text
value="Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48006-1"/>
<code>
<system value="http://loinc.org"/>
<code value="48006-1"/>
<display value="Amino acid change type"/>
</code>
<text value="Amino acid change type"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9658-1"/>
<display value="Wild type"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6692-3"/>
<display value="Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6686-5"/>
<display value="Duplication"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6694-9"/>
<display value="Frameshift"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6695-6"/>
<display value="Initiating Methionine"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6687-3"/>
<display value="Insertion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9659-9"/>
<display value="Insertion and Deletion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6698-0"/>
<display value="Missense"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6699-8"/>
<display value="Nonsense"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6700-4"/>
<display value="Silent"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6701-2"/>
<display value="Stop Codon Mutation"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48006-1-help"/>
<text
value="Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/48013-7"/>
<code>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence ID"/>
</code>
<text value="Genomic reference sequence ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48013-7-help"/>
<text
value="This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/81290-9"/>
<code>
<system value="http://loinc.org"/>
<code value="81290-9"/>
<display value="Struct var HGVS name"/>
</code>
<text value="Struct var HGVS name"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81290-9-help"/>
<text
value="The name of a structural variant reported using HGVS nomenclature."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/69547-8"/>
<code>
<system value="http://loinc.org"/>
<code value="69547-8"/>
<display value="Ref nucleotide"/>
</code>
<text value="Ref nucleotide"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/69547-8-help"/>
<text
value="Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/81254-5"/>
<code>
<system value="http://loinc.org"/>
<code value="81254-5"/>
<display value="Gen allele loc ID"/>
</code>
<text value="Gen allele loc ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81254-5-help"/>
<text
value="The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/69551-0"/>
<code>
<system value="http://loinc.org"/>
<code value="69551-0"/>
<display value="Alt allele"/>
</code>
<text value="Alt allele"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/69551-0-help"/>
<text
value="The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/84414-2"/>
<code>
<system value="http://loinc.org"/>
<code value="84414-2"/>
<display value="Haplotype name Bld/T"/>
</code>
<text value="Haplotype name Bld/T"/>
<type value="string"/>
</item>
<item>
<linkId value="/83011-7/81250-3/81255-2"/>
<code>
<system value="http://loinc.org"/>
<code value="81255-2"/>
<display value="dbSNP ID"/>
</code>
<text value="dbSNP ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81255-2-help"/>
<text
value="The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]"/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/81257-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81257-8"/>
<display value="CIGAR var ID"/>
</code>
<text value="CIGAR var ID"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81257-8-help"/>
<text
value="This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/48001-2"/>
<code>
<system value="http://loinc.org"/>
<code value="48001-2"/>
<display value="Cyto loc ID"/>
</code>
<text value="Cyto loc ID"/>
<type value="string"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48002-0"/>
<code>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class"/>
</code>
<text value="Genomic source class"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6683-2"/>
<display value="Germline"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6684-0"/>
<display value="Somatic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA10429-1"/>
<display value="Fetal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18194-3"/>
<display value="Likely germline"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18195-0"/>
<display value="Likely somatic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18196-8"/>
<display value="Likely fetal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18197-6"/>
<display value="Unknown genomic origin"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26807-0"/>
<display value="De novo"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/48002-0-help"/>
<text
value="The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81304-8"/>
<code>
<system value="http://loinc.org"/>
<code value="81304-8"/>
<display value="Struct var analysis method"/>
</code>
<text value="Struct var analysis method"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26398-0"/>
<display value="Sequencing"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26399-8"/>
<display value="Oligo aCGH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26400-4"/>
<display value="SNP array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26401-2"/>
<display value="BAC aCGH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26402-0"/>
<display value="Curated"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26403-8"/>
<display value="Digital array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26404-6"/>
<display value="FISH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26405-3"/>
<display value="Gene expression array"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26406-1"/>
<display value="Karyotyping"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26407-9"/>
<display value="MAPH"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26408-7"/>
<display value="MALDI-TOF"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26808-8"/>
<display value="Merging"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26414-5"/>
<display value="Multiple complete digestion"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26415-2"/>
<display value="MLPA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26417-8"/>
<display value="Optical mapping"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26418-6"/>
<display value="PCR"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26419-4"/>
<display value="qPCR (real-time PCR)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26420-2"/>
<display value="ROMA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26809-6"/>
<display
value="Denaturing high-pressure liquid chromatography (DHPLC)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26810-4"/>
<display value="DNA hybridization"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26811-2"/>
<display value="Computational analysis"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26812-0"/>
<display
value="Single-stranded conformational polymorphism (SSCP)"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26813-8"/>
<display value="Restriction fragment length polymorphism (RFLP)"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81304-8-help"/>
<text
value="The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/53037-8"/>
<code>
<system value="http://loinc.org"/>
<code value="53037-8"/>
<display value="Gene dis seq var interp-Imp"/>
</code>
<text value="Gene dis seq var interp-Imp"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6668-3"/>
<display value="Pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26332-9"/>
<display value="Likely pathogenic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26333-7"/>
<display value="Uncertain significance"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26334-5"/>
<display value="Likely benign"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6675-8"/>
<display value="Benign"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/53037-8-help"/>
<text
value="Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/69548-6"/>
<code>
<system value="http://loinc.org"/>
<code value="69548-6"/>
<display value="Genetic var assess"/>
</code>
<text value="Genetic var assess"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA9634-2"/>
<display value="Absent"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA18198-4"/>
<display value="No call"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA11884-6"/>
<display value="Indeterminate"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/69548-6-help"/>
<text
value="Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective."/>
<type value="display"/>
</item>
</item>
<item>
<linkId value="/83011-7/81250-3/81259-4"/>
<code>
<system value="http://loinc.org"/>
<code value="81259-4"/>
<display value="Prob assoc phenotype"/>
</code>
<text value="Prob assoc phenotype"/>
<type value="string"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81259-4-help"/>
<text
value="The possible phenotype associated with the genetic variant found in this study."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/53034-5"/>
<code>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
</code>
<text value="Allelic state"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6703-8"/>
<display value="Heteroplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6704-6"/>
<display value="Homoplasmic"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6705-3"/>
<display value="Homozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA6707-9"/>
<display value="Hemizygous"/>
</valueCoding>
</answerOption>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/53034-5-help"/>
<text
value="The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="%"/>
<display value="%"/>
</valueCoding>
</extension>
<linkId value="/83011-7/81250-3/81258-6"/>
<code>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Sample VAF"/>
</code>
<text value="Sample VAF"/>
<type value="decimal"/>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system
value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/81258-6-help"/>
<text
value="The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction."/>
<type value="display"/>
</item>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit">
<valueCoding>
<system value="http://unitsofmeasure.org"/>
<code value="{#}"/>
<display value="{#}"/>
</valueCoding>
</extension>
<linkId value="/83011-7/81250-3/82121-5"/>
<code>
<system value="http://loinc.org"/>
<code value="82121-5"/>
<display value="Allelic read depth"/>
</code>
<text value="Allelic read depth"/>
<type value="decimal"/>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/82120-7"/>
<code>
<system value="http://loinc.org"/>
<code value="82120-7"/>
<display value="Allelic phase"/>
</code>
<text value="Allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26814-6"/>
<display
value="1st set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26815-3"/>
<display
value="2nd set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26816-1"/>
<display
value="3rd set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26817-9"/>
<display
value="4th set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26818-7"/>
<display
value="5th set of variants in cis relation to each other"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26320-4"/>
<display value="Maternal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26321-2"/>
<display value="Paternal"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA4489-6"/>
<display value="Unknown"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA46-8"/>
<display value="Other"/>
</valueCoding>
</answerOption>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="drop-down"/>
<display value="Drop down"/>
</coding>
<text value="Drop down"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3/82309-6"/>
<code>
<system value="http://loinc.org"/>
<code value="82309-6"/>
<display value="Basis allelic phase"/>
</code>
<text value="Basis allelic phase"/>
<type value="choice"/>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26426-9"/>
<display value="Directly measured"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26427-7"/>
<display value="Family DNA"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26428-5"/>
<display value="Family history"/>
</valueCoding>
</answerOption>
<answerOption>
<valueCoding>
<system value="http://loinc.org"/>
<code value="LA26429-3"/>
<display value="Inferred from population data"/>
</valueCoding>
</answerOption>
</item>
<item>
<extension
url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl">
<valueCodeableConcept>
<coding>
<system value="http://hl7.org/fhir/questionnaire-item-control"/>
<code value="help"/>
<display value="Help-Button"/>
</coding>
<text value="Help-Button"/>
</valueCodeableConcept>
</extension>
<linkId value="/83011-7/81250-3-help"/>
<text
value="This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants."/>
<type value="display"/>
</item>
</item>
</item>
</Questionnaire>
IG © 2024+ Manchester University NHS Foundation Trust. Package nhs.mft.fhir#0.0.1 based on FHIR 4.0.1. Generated 2025-02-23
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