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

VariantInheritance - xml

Raw xml

Narrative view of the Value Set

<ValueSet xmlns="http://hl7.org/fhir">
  <id value="variant-inheritance"/>
  <meta>
    <profile value="http://hl7.org/fhir/StructureDefinition/shareablevalueset"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><h2>Variant Inheritance</h2><div><p>A quality inhering in a variant by virtue of its origin.</p>
</div><p>This value set includes codes from the following code systems:</p><ul><li>Include codes from <a href="http://sequenceontology.org"><code>http://sequenceontology.org</code></a> where concept  descends from  SO:0001762</li><li>Include these codes as defined in <a href="https://hl7.org/fhir/codesystem-data-absent-reason.html"><code>http://terminology.hl7.org/CodeSystem/data-absent-reason</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="https://hl7.org/fhir/codesystem-data-absent-reason.html#data-absent-reason-asked-unknown">asked-unknown</a></td><td>Don't know</td><td>The source was asked but does not know the value.</td></tr></table></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/variant-inheritance"/>
  <version value="1.0.0"/>
  <name value="VariantInheritance"/>
  <title value="Variant Inheritance"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2019-09-25T00:00:00-04:00"/>
  <publisher value="HL7 (Clinical Genomics)"/>
  <contact>
    <telecom>
      <system value="other"/>
      <value value="https://confluence.hl7.org/display/CGW/WorkGroup+Home"/>
    </telecom>
  </contact>
  <description value="A quality inhering in a variant by virtue of its origin."/>
  <compose>
    <include>
      <system value="http://sequenceontology.org"/>
      <filter>
        <property value="concept"/>
        <op value="descendent-of"/>
        <value value="SO:0001762"/>
      </filter>
    </include>
    <include>
      <system value="http://terminology.hl7.org/CodeSystem/data-absent-reason"/>
      <concept>
        <code value="asked-unknown"/>
        <display value="Don&#39;t know"/>
      </concept>
    </include>
  </compose>
</ValueSet>