NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Genomic Rare and Inherited Disease Test Directory

Draft as of 2026-09-20

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="RareAndInheritedDiseaseTestCodes"/>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet RareAndInheritedDiseaseTestCodes</b></p><a name="RareAndInheritedDiseaseTestCodes"> </a><a name="hcRareAndInheritedDiseaseTestCodes"> </a><ul><li>Include codes from<a href="CodeSystem-GenomicTestCode.html"><code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code></a><span title="Version is not explicitly stated, which means it is fixed to the version provided in this specification"> version &#x1F4E6;2.2.0</span> where category  = rare-and-inherited-disease</li></ul></div>
  </text>
  <url
       value="https://fhir.nwgenomics.nhs.uk/ValueSet/RareAndInheritedDiseaseTestCodes"/>
  <version value="2.2.0"/>
  <name value="RareAndInheritedDiseaseTestCodes"/>
  <title value="Genomic Rare and Inherited Disease Test Directory"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2026-09-20T05:53:36+00:00"/>
  <publisher value="NHS North West Genomics"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="https://www.nwgenomics.nhs.uk/contact-us"/>
    </telecom>
  </contact>
  <description
               value="- See **National genomic test directory for rare and inherited disease** (v9) on [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)
- All `category = rare-and-inherited-disease` codes from `EnglandTestCode` (`CodeSystem-GenomicTestCode`), checked/refreshed 2026-09-05."/>
  <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"/>
      <filter>
        <property value="category"/>
        <op value="="/>
        <value value="rare-and-inherited-disease"/>
      </filter>
    </include>
  </compose>
</ValueSet>