North West Genomics Testing Workflow (GTW)
0.0.1 - ci-build United Kingdom flag

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

: Genomic Test Directory - XML Representation

Draft as of 2025-02-11

Raw xml | Download


<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="nhsengland-genomic-test-directory"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem nhsengland-genomic-test-directory</b></p><a name="nhsengland-genomic-test-directory"> </a><a name="hcnhsengland-genomic-test-directory"> </a><a name="nhsengland-genomic-test-directory-en-GB"> </a><p>This case-sensitive code system <code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code> provides <b>a fragment</b> that includes following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style="white-space:nowrap">R14.1<a name="nhsengland-genomic-test-directory-R14.461"> </a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td style="white-space:nowrap">R133.1<a name="nhsengland-genomic-test-directory-R133.461"> </a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R391.1<a name="nhsengland-genomic-test-directory-R391.461"> </a></td><td>Barth syndrome</td></tr><tr><td style="white-space:nowrap">R128.1<a name="nhsengland-genomic-test-directory-R128.461"> </a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td style="white-space:nowrap">R129.1<a name="nhsengland-genomic-test-directory-R129.461"> </a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td style="white-space:nowrap">R132.1<a name="nhsengland-genomic-test-directory-R132.461"> </a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R140.1<a name="nhsengland-genomic-test-directory-R140.461"> </a></td><td>Elastin-related phenotypes</td></tr><tr><td style="white-space:nowrap">R384.1<a name="nhsengland-genomic-test-directory-R384.461"> </a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td style="white-space:nowrap">R131.1<a name="nhsengland-genomic-test-directory-R131.461"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R127.1<a name="nhsengland-genomic-test-directory-R127.461"> </a></td><td>Long QT syndrome</td></tr><tr><td style="white-space:nowrap">R135.2<a name="nhsengland-genomic-test-directory-R135.462"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R135.3<a name="nhsengland-genomic-test-directory-R135.463"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R136.1<a name="nhsengland-genomic-test-directory-R136.461"> </a></td><td>Primary lymphoedema</td></tr><tr><td style="white-space:nowrap">R328.1<a name="nhsengland-genomic-test-directory-R328.461"> </a></td><td>Progressive cardiac conduction disease</td></tr><tr><td style="white-space:nowrap">R130.1<a name="nhsengland-genomic-test-directory-R130.461"> </a></td><td>Short QT syndrome</td></tr><tr><td style="white-space:nowrap">R138.1<a name="nhsengland-genomic-test-directory-R138.461"> </a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td style="white-space:nowrap">R240.1<a name="nhsengland-genomic-test-directory-R240.461"> </a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td style="white-space:nowrap">R242.1<a name="nhsengland-genomic-test-directory-R242.461"> </a></td><td>Predictive testing for known familial variant(s)</td></tr></table></div>
  </text>
  <url value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
  <version value="0.0.1"/>
  <name value="NHSEnglandGenomicTestDirectory"/>
  <title value="Genomic Test Directory"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2025-02-11"/>
  <publisher value="Manchester University NHS Foundation Trust"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://mft.nhs.uk/"/>
    </telecom>
  </contact>
  <contact>
    <telecom>
      <system value="email"/>
      <value value="pressoffice@mft.nhs.uk"/>
    </telecom>
  </contact>
  <contact>
    <name value="Press Office"/>
    <telecom>
      <system value="email"/>
      <value value="pressoffice@mft.nhs.uk"/>
    </telecom>
  </contact>
  <description
               value="- [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)"/>
  <jurisdiction>
    <coding>
      <system value="urn:iso:std:iso:3166"/>
      <code value="GB"/>
      <display value="United Kingdom of Great Britain and Northern Ireland"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <content value="fragment"/>
  <concept>
    <code value="R14.1"/>
    <display
             value="Acutely unwell children with a likely monogenic disorder"/>
  </concept>
  <concept>
    <code value="R133.1"/>
    <display value="Arrhythmogenic right ventricular cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R391.1"/>
    <display value="Barth syndrome"/>
  </concept>
  <concept>
    <code value="R128.1"/>
    <display value="Brugada syndrome and cardiac sodium channel disease"/>
  </concept>
  <concept>
    <code value="R129.1"/>
    <display value="Catecholaminergic polymorphic VT"/>
  </concept>
  <concept>
    <code value="R132.1"/>
    <display value="Dilated and Arrhythmogenic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R140.1"/>
    <display value="Elastin-related phenotypes"/>
  </concept>
  <concept>
    <code value="R384.1"/>
    <display value="Generalised arterial calcification in infancy"/>
  </concept>
  <concept>
    <code value="R131.1"/>
    <display value="Hypertrophic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R127.1"/>
    <display value="Long QT syndrome"/>
  </concept>
  <concept>
    <code value="R135.2"/>
    <display value="Paediatric or syndromic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R135.3"/>
    <display value="Paediatric or syndromic cardiomyopathy"/>
  </concept>
  <concept>
    <code value="R136.1"/>
    <display value="Primary lymphoedema"/>
  </concept>
  <concept>
    <code value="R328.1"/>
    <display value="Progressive cardiac conduction disease"/>
  </concept>
  <concept>
    <code value="R130.1"/>
    <display value="Short QT syndrome"/>
  </concept>
  <concept>
    <code value="R138.1"/>
    <display
             value="Sudden unexplained death or survivors of a cardiac event"/>
  </concept>
  <concept>
    <code value="R240.1"/>
    <display value="Diagnostic testing for known variant(s)"/>
  </concept>
  <concept>
    <code value="R242.1"/>
    <display value="Predictive testing for known familial variant(s)"/>
  </concept>
</CodeSystem>