North West Genomic Medicine Service Alliance
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 Genomic Medicine Service Alliance - Local Development build (v0.0.1) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Genomic Rare and Inherited Disease Test Directory - XML Representation

Draft as of 2025-06-19

Raw xml | Download


<ValueSet xmlns="http://hl7.org/fhir">
  <id value="GenomicRareAndInheritedDisease"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet GenomicRareAndInheritedDisease</b></p><a name="GenomicRareAndInheritedDisease"> </a><a name="hcGenomicRareAndInheritedDisease"> </a><ul><li>Include these codes as defined in <a href="CodeSystem-nhsengland-genomic-test-directory.html"><code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R14.461">R14.1</a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R133.461">R133.1</a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R391.461">R391.1</a></td><td>Barth syndrome</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R128.461">R128.1</a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R129.461">R129.1</a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R132.461">R132.1</a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R140.461">R140.1</a></td><td>Elastin-related phenotypes</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R384.461">R384.1</a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R131.461">R131.1</a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R127.461">R127.1</a></td><td>Long QT syndrome</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R135.462">R135.2</a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R135.463">R135.3</a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R136.461">R136.1</a></td><td>Primary lymphoedema</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R328.461">R328.1</a></td><td>Progressive cardiac conduction disease</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R130.461">R130.1</a></td><td>Short QT syndrome</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R138.461">R138.1</a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R240.461">R240.1</a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td><a href="CodeSystem-nhsengland-genomic-test-directory.html#nhsengland-genomic-test-directory-R242.461">R242.1</a></td><td>Predictive testing for known familial variant(s)</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://nw-gmsa.github.io/ValueSet/GenomicRareAndInheritedDisease"/>
  <version value="0.0.1"/>
  <name value="GenomicRareAndInheritedDisease"/>
  <title value="Genomic Rare and Inherited Disease Test Directory"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2025-06-19T14:44:16+00:00"/>
  <publisher value="NHS North West GMSA"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://www.nw-gmsa.nhs.uk/contact-us"/>
    </telecom>
  </contact>
  <description
               value="- See **National genomic test directory for rare and inherited disease** on [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>
  <compose>
    <include>
      <system
              value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
      <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>
    </include>
  </compose>
</ValueSet>