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-ballot 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

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: Human Genome Variation Society (HGVS) Nomenclature - XML Representation

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="hgvs-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet hgvs-vs</b></p><a name="hgvs-vs"> </a><a name="hchgvs-vs"> </a><ul><li>Include all codes defined in <a href="http://terminology.hl7.org/6.5.0/CodeSystem-v3-hgvs.html"><code>http://varnomen.hgvs.org</code></a></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/hgvs-vs"/>
  <version value="4.0.0-ballot"/>
  <name value="HGVSVS"/>
  <title value="Human Genome Variation Society (HGVS) Nomenclature"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2025-09-17T15:29:16+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="HGVS-nomenclature is used to report and exchange information regarding variants found in DNA, RNA and protein sequences and serves as an international standard. (source: varnomen.hgvs.org)"/>
  <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://varnomen.hgvs.org"/>
    </include>
  </compose>
</ValueSet>