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

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

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

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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><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/hgvs-vs"/>
      <version value="4.0.0-cibuild"/>
      <name value="HGVSVS"/>
      <title value="Human Genome Variation Society (HGVS) Nomenclature"/>
      <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="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>