North West Genomic Medicine Service Alliance
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North West Genomic Medicine Service Alliance - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Genomic Test Directory - XML Representation

Active as of 2025-02-11

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="NHSEngland-GenomicTestDirectory"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem NHSEngland-GenomicTestDirectory</b></p><a name="NHSEngland-GenomicTestDirectory"> </a><a name="hcNHSEngland-GenomicTestDirectory"> </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-GenomicTestDirectory-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-GenomicTestDirectory-R133.461"> </a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R391.1<a name="NHSEngland-GenomicTestDirectory-R391.461"> </a></td><td>Barth syndrome</td></tr><tr><td style="white-space:nowrap">R128.1<a name="NHSEngland-GenomicTestDirectory-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-GenomicTestDirectory-R129.461"> </a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td style="white-space:nowrap">R132.1<a name="NHSEngland-GenomicTestDirectory-R132.461"> </a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R140.1<a name="NHSEngland-GenomicTestDirectory-R140.461"> </a></td><td>Elastin-related phenotypes</td></tr><tr><td style="white-space:nowrap">R384.1<a name="NHSEngland-GenomicTestDirectory-R384.461"> </a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td style="white-space:nowrap">R131.1<a name="NHSEngland-GenomicTestDirectory-R131.461"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R127.1<a name="NHSEngland-GenomicTestDirectory-R127.461"> </a></td><td>Long QT syndrome</td></tr><tr><td style="white-space:nowrap">R135.2<a name="NHSEngland-GenomicTestDirectory-R135.462"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R135.3<a name="NHSEngland-GenomicTestDirectory-R135.463"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style="white-space:nowrap">R136.1<a name="NHSEngland-GenomicTestDirectory-R136.461"> </a></td><td>Primary lymphoedema</td></tr><tr><td style="white-space:nowrap">R328.1<a name="NHSEngland-GenomicTestDirectory-R328.461"> </a></td><td>Progressive cardiac conduction disease</td></tr><tr><td style="white-space:nowrap">R130.1<a name="NHSEngland-GenomicTestDirectory-R130.461"> </a></td><td>Short QT syndrome</td></tr><tr><td style="white-space:nowrap">R138.1<a name="NHSEngland-GenomicTestDirectory-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-GenomicTestDirectory-R240.461"> </a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td style="white-space:nowrap">R242.1<a name="NHSEngland-GenomicTestDirectory-R242.461"> </a></td><td>Predictive testing for known familial variant(s)</td></tr><tr><td style="white-space:nowrap">R361.1<a name="NHSEngland-GenomicTestDirectory-R361.461"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing</td></tr><tr><td style="white-space:nowrap">R361.2<a name="NHSEngland-GenomicTestDirectory-R361.462"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing</td></tr><tr><td style="white-space:nowrap">R372.1<a name="NHSEngland-GenomicTestDirectory-R372.461"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style="white-space:nowrap">R93.1<a name="NHSEngland-GenomicTestDirectory-R93.461"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style="white-space:nowrap">R93.2<a name="NHSEngland-GenomicTestDirectory-R93.462"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style="white-space:nowrap">M119.1<a name="NHSEngland-GenomicTestDirectory-M119.461"> </a></td><td/></tr><tr><td style="white-space:nowrap">M119.2<a name="NHSEngland-GenomicTestDirectory-M119.462"> </a></td><td/></tr><tr><td style="white-space:nowrap">M119.4<a name="NHSEngland-GenomicTestDirectory-M119.464"> </a></td><td/></tr><tr><td style="white-space:nowrap">M119.5<a name="NHSEngland-GenomicTestDirectory-M119.465"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.1<a name="NHSEngland-GenomicTestDirectory-M120.461"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.2<a name="NHSEngland-GenomicTestDirectory-M120.462"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.3<a name="NHSEngland-GenomicTestDirectory-M120.463"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.4<a name="NHSEngland-GenomicTestDirectory-M120.464"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.5<a name="NHSEngland-GenomicTestDirectory-M120.465"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.6<a name="NHSEngland-GenomicTestDirectory-M120.466"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.7<a name="NHSEngland-GenomicTestDirectory-M120.467"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.8<a name="NHSEngland-GenomicTestDirectory-M120.468"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.9<a name="NHSEngland-GenomicTestDirectory-M120.469"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.10<a name="NHSEngland-GenomicTestDirectory-M120.4610"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.11<a name="NHSEngland-GenomicTestDirectory-M120.4611"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.12<a name="NHSEngland-GenomicTestDirectory-M120.4612"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.13<a name="NHSEngland-GenomicTestDirectory-M120.4613"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.14<a name="NHSEngland-GenomicTestDirectory-M120.4614"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.15<a name="NHSEngland-GenomicTestDirectory-M120.4615"> </a></td><td/></tr><tr><td style="white-space:nowrap">M120.16<a name="NHSEngland-GenomicTestDirectory-M120.4616"> </a></td><td/></tr></table></div>
  </text>
  <url value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/>
  <version value="0.0.7"/>
  <name value="NHSEnglandGenomicTestDirectory"/>
  <title value="Genomic Test Directory"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2025-02-11"/>
  <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="- [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>
  <concept>
    <code value="R361.1"/>
    <display
             value="Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"/>
  </concept>
  <concept>
    <code value="R361.2"/>
    <display
             value="Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"/>
  </concept>
  <concept>
    <code value="R372.1"/>
    <display
             value="Newborn screening for sickle cell disease in a transfused baby"/>
  </concept>
  <concept>
    <code value="R93.1"/>
    <display value="Sickle cell, thalassaemia and other haemoglobinopathies"/>
  </concept>
  <concept>
    <code value="R93.2"/>
    <display value="Sickle cell, thalassaemia and other haemoglobinopathies"/>
  </concept>
  <concept>
    <code value="M119.1"/>
  </concept>
  <concept>
    <code value="M119.2"/>
  </concept>
  <concept>
    <code value="M119.4"/>
  </concept>
  <concept>
    <code value="M119.5"/>
  </concept>
  <concept>
    <code value="M120.1"/>
  </concept>
  <concept>
    <code value="M120.2"/>
  </concept>
  <concept>
    <code value="M120.3"/>
  </concept>
  <concept>
    <code value="M120.4"/>
  </concept>
  <concept>
    <code value="M120.5"/>
  </concept>
  <concept>
    <code value="M120.6"/>
  </concept>
  <concept>
    <code value="M120.7"/>
  </concept>
  <concept>
    <code value="M120.8"/>
  </concept>
  <concept>
    <code value="M120.9"/>
  </concept>
  <concept>
    <code value="M120.10"/>
  </concept>
  <concept>
    <code value="M120.11"/>
  </concept>
  <concept>
    <code value="M120.12"/>
  </concept>
  <concept>
    <code value="M120.13"/>
  </concept>
  <concept>
    <code value="M120.14"/>
  </concept>
  <concept>
    <code value="M120.15"/>
  </concept>
  <concept>
    <code value="M120.16"/>
  </concept>
</CodeSystem>