RareLink Implementation Guide
2.0.0 - 2.0.0

RareLink Implementation Guide - Local Development build (v2.0.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Zygosity Value Set - XML Representation

Draft as of 2025-06-03

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="zygosity-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet zygosity-vs</b></p><a name="zygosity-vs"> </a><a name="hczygosity-vs"> </a><a name="zygosity-vs-en-US"> </a><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="https://loinc.org/LA6705-3/">LA6705-3</a></td><td>Homozygous</td></tr><tr><td><a href="https://loinc.org/LA6706-1/">LA6706-1</a></td><td>(simple) Heterozygous</td></tr><tr><td><a href="https://loinc.org/LA26217-2/">LA26217-2</a></td><td>Compound heterozygous</td></tr><tr><td><a href="https://loinc.org/LA26220-6/">LA26220-6</a></td><td>Double heterozygous</td></tr><tr><td><a href="https://loinc.org/LA6707-9/">LA6707-9</a></td><td>Hemizygous</td></tr><tr><td><a href="https://loinc.org/LA6703-8/">LA6703-8</a></td><td>Heteroplasmic</td></tr><tr><td><a href="https://loinc.org/LA6704-6/">LA6704-6</a></td><td>Homoplasmic</td></tr></table></li></ul></div>
  </text>
  <url value="https://rarelink.bih-charite.de/fhir/ValueSet/zygosity-vs"/>
  <version value="2.0.0"/>
  <name value="ZygosityVS"/>
  <title value="Zygosity Value Set"/>
  <status value="draft"/>
  <date value="2025-06-03T09:15:35+00:00"/>
  <publisher
             value="Berlin Institute of Health - Charité Universitätsmedizin Berlin"/>
  <contact>
    <name
          value="Berlin Institute of Health - Charité Universitätsmedizin Berlin"/>
    <telecom>
      <system value="url"/>
      <value value="https://github.com/BIH-CEI/RareLink"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="adam.graefe@charite.de"/>
    </telecom>
  </contact>
  <description value="LOINC LA codes enumerating various zygosity states."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA6705-3"/>
        <display value="Homozygous"/>
      </concept>
      <concept>
        <code value="LA6706-1"/>
        <display value="(simple) Heterozygous"/>
      </concept>
      <concept>
        <code value="LA26217-2"/>
        <display value="Compound heterozygous"/>
      </concept>
      <concept>
        <code value="LA26220-6"/>
        <display value="Double heterozygous"/>
      </concept>
      <concept>
        <code value="LA6707-9"/>
        <display value="Hemizygous"/>
      </concept>
      <concept>
        <code value="LA6703-8"/>
        <display value="Heteroplasmic"/>
      </concept>
      <concept>
        <code value="LA6704-6"/>
        <display value="Homoplasmic"/>
      </concept>
    </include>
  </compose>
</ValueSet>