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

: DNA Change Type Value Set - XML Representation

Draft as of 2025-06-03

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="dna-change-type-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet dna-change-type-vs</b></p><a name="dna-change-type-vs"> </a><a name="hcdna-change-type-vs"> </a><a name="dna-change-type-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/LA9658-1/">LA9658-1</a></td><td>Wild type</td></tr><tr><td><a href="https://loinc.org/LA6692-3/">LA6692-3</a></td><td>Deletion</td></tr><tr><td><a href="https://loinc.org/LA6686-5/">LA6686-5</a></td><td>Duplication</td></tr><tr><td><a href="https://loinc.org/LA6687-3/">LA6687-3</a></td><td>Insertion</td></tr><tr><td><a href="https://loinc.org/LA6688-1/">LA6688-1</a></td><td>Insertion/Deletion</td></tr><tr><td><a href="https://loinc.org/LA6689-9/">LA6689-9</a></td><td>Inversion</td></tr><tr><td><a href="https://loinc.org/LA6690-7/">LA6690-7</a></td><td>Substitution</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/dna-change-type-vs"/>
  <version value="2.0.0"/>
  <name value="DNAChangeTypeVS"/>
  <title value="DNA Change Type 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 DNA change types."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA9658-1"/>
        <display value="Wild type"/>
      </concept>
      <concept>
        <code value="LA6692-3"/>
        <display value="Deletion"/>
      </concept>
      <concept>
        <code value="LA6686-5"/>
        <display value="Duplication"/>
      </concept>
      <concept>
        <code value="LA6687-3"/>
        <display value="Insertion"/>
      </concept>
      <concept>
        <code value="LA6688-1"/>
        <display value="Insertion/Deletion"/>
      </concept>
      <concept>
        <code value="LA6689-9"/>
        <display value="Inversion"/>
      </concept>
      <concept>
        <code value="LA6690-7"/>
        <display value="Substitution"/>
      </concept>
    </include>
  </compose>
</ValueSet>