Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Functional Effect - XML Representation

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="functional-effect-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Include codes from <a href="http://sequenceontology.org"><code>http://sequenceontology.org</code></a> where concept  is-a  SO:0001536</li></ul></div>
  </text>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/functional-effect-vs"/>
  <version value="2.0.0"/>
  <name value="FunctionalEffectVS"/>
  <title value="Functional Effect"/>
  <status value="active"/>
  <date value="2022-05-09T16:59:16+00:00"/>
  <publisher value="HL7 Clinical Genomics Working Group"/>
  <contact>
    <name value="HL7 Clinical Genomics Working Group"/>
    <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="The effect of a variant on downstream biological products or pathways."/>
  <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://sequenceontology.org"/>
      <filter>
        <property value="concept"/>
        <op value="is-a"/>
        <value value="SO:0001536"/>
      </filter>
    </include>
  </compose>
</ValueSet>