Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: HGVS Value Set - XML Representation

Raw xml | Download



<ValueSet xmlns="http://hl7.org/fhir">
  <id value="hgvs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Include all codes defined in <a href="https://terminology.hl7.org/1.0.0//CodeSystem-v3-hgvs.html"><code>http://varnomen.hgvs.org</code></a></li></ul></div>
  </text>
  <url value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/hgvs"/>
  <version value="1.1.0"/>
  <name value="HGVSVS"/>
  <title value="Human Genome Variation Society (HGVS) Nomenclature"/>
  <status value="active"/>
  <date value="2021-04-13T19:13:37+00:00"/>
  <publisher value="HL7 International Clinical Genomics Work Group"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </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"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="http://varnomen.hgvs.org"/>
    </include>
  </compose>
</ValueSet>