Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: HUGO Gene Nomenclature Committee Gene Names (HGNC) - XML Representation

Active as of 2024-12-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="hgnc-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet hgnc-vs</b></p><a name="hgnc-vs"> </a><a name="hchgnc-vs"> </a><a name="hgnc-vs-en-US"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include all codes defined in <a href="http://www.genenames.org"><code>http://www.genenames.org</code></a></li><li>Include all codes defined in <a href="http://terminology.hl7.org/6.1.0/CodeSystem-HGNCGeneGroup.html"><code>http://www.genenames.org/genegroup</code></a></li></ul></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <url value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"/>
  <version value="3.0.0"/>
  <name value="HGNCVS"/>
  <title value="HUGO Gene Nomenclature Committee Gene Names (HGNC)"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2024-12-12T21:16:09+00:00"/>
  <publisher value="HL7 International / Clinical Genomics"/>
  <contact>
    <name value="HL7 International / Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cg@lists.HL7.org"/>
    </telecom>
  </contact>
  <description
               value="This value set includes all HGNC Codes, which includes multiple code systems. In this guide, Gene IDs from HGNC are used as CodeableConcepts, which must be sent with the HGNC gene ID including the prefix 'HGNC:' as the code and the HGNC 'gene symbol' as display. CAUTION: HGNC also indexes gene groups by numeric ID (without a prefix), and older systems may send HGNC gene IDs without the prefix, so care must be taken to confirm alignment. We have separately included the genegroup code system to draw attention to this ambiguity and potential error."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="http://www.genenames.org"/>
    </include>
    <include>
      <system value="http://www.genenames.org/genegroup"/>
    </include>
  </compose>
</ValueSet>