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 in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: Variant Inheritances - XML Representation

Raw xml | Download



<ValueSet xmlns="http://hl7.org/fhir">
  <id value="variant-inheritance-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><ul><li>Include these codes as defined in <a href="http://loinc.org"><code>http://loinc.org</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="http://details.loinc.org/LOINC/LA26320-4.html">LA26320-4</a></td><td>Maternal</td></tr><tr><td><a href="http://details.loinc.org/LOINC/LA26321-2.html">LA26321-2</a></td><td>Paternal</td></tr><tr><td><a href="http://details.loinc.org/LOINC/LA4489-6.html">LA4489-6</a></td><td>Unknown</td></tr></table></li></ul></div>
  </text>
  <url
       value="http://hl7.org/fhir/uv/genomics-reporting/ValueSet/variant-inheritance-vs"/>
  <version value="2.0.0"/>
  <name value="VariantInheritanceVS"/>
  <title value="Variant Inheritances"/>
  <status value="active"/>
  <date value="2022-05-09T16:53:07+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="By which parent the variant was inherited in the patient, if known."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <copyright
             value="This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA26320-4"/>
        <display value="Maternal"/>
      </concept>
      <concept>
        <code value="LA26321-2"/>
        <display value="Paternal"/>
      </concept>
      <concept>
        <code value="LA4489-6"/>
        <display value="Unknown"/>
      </concept>
    </include>
  </compose>
</ValueSet>