Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

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

Page standards status: Trial-use | Maturity Level: 2

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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><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><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span></li><li>Include all codes defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-HGNCGeneGroup.html"><code>http://www.genenames.org/genegroup</code></a><span title="Version is not explicity stated. No matching Code System found"> version Not Stated (use latest from terminology server)</span></li></ul></div>
      </text>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
        <valueCode value="cg"/>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
        <valueInteger value="2">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueInteger>
      </extension>
      <extension
                 url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
        <valueCode value="trial-use">
          <extension
                     url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
            <valueCanonical
                            value="http://hl7.org/fhir/uv/genomics-reporting/ImplementationGuide/genomics-reporting"/>
          </extension>
        </valueCode>
      </extension>
      <url value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgnc-vs"/>
      <version value="4.0.0-cibuild"/>
      <name value="HGNCVS"/>
      <title value="HUGO Gene Nomenclature Committee Gene Names (HGNC)"/>
      <status value="active"/>
      <experimental value="false"/>
      <date value="2025-11-08T00:09:50+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>