This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 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

HGNC - xml

Raw xml

Narrative view of the Value Set

<ValueSet xmlns="http://hl7.org/fhir">
  <id value="hgnc"/>
  <meta>
    <profile value="http://hl7.org/fhir/StructureDefinition/shareablevalueset"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><h2>HGNC</h2><div><p>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>code</code> and the HGNC 'gene symbol' as <code>display</code>. 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.</p>
</div><p>This value set includes codes from the following code systems:</p><ul><li>Include all codes defined in <code>http://www.genenames.org/geneId</code></li><li>Include all codes defined in <code>http://www.genenames.org/genegroup</code></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"/>
  <version value="1.0.0"/>
  <name value="HGNC"/>
  <title value="HGNC"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2018-10-01T00:00:00-04:00"/>
  <publisher value="HL7 (Clinical Genomics)"/>
  <contact>
    <telecom>
      <system value="url"/>
      <value value="http://hl7.org/fhir"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="fhir@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 &#39;HGNC:&#39; as the `code` and the HGNC &#39;gene symbol&#39; 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."/>
  <compose>
    <include>
      <system value="http://www.genenames.org/geneId"/>
    </include>
    <include>
      <system value="http://www.genenames.org/genegroup"/>
    </include>
  </compose>
</ValueSet>