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

: Genomic Source Class Value Set - XML Representation

Draft as of 2025-05-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="genomic-source-class-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet genomic-source-class-vs</b></p><a name="genomic-source-class-vs"> </a><a name="hcgenomic-source-class-vs"> </a><a name="genomic-source-class-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/LA6683-2/">LA6683-2</a></td><td>Germline</td></tr><tr><td><a href="https://loinc.org/LA6684-0/">LA6684-0</a></td><td>Somatic</td></tr><tr><td><a href="https://loinc.org/LA10429-1/">LA10429-1</a></td><td>Fetal</td></tr><tr><td><a href="https://loinc.org/LA18194-3/">LA18194-3</a></td><td>Likely germline</td></tr><tr><td><a href="https://loinc.org/LA18195-0/">LA18195-0</a></td><td>Likely somatic</td></tr><tr><td><a href="https://loinc.org/LA18196-8/">LA18196-8</a></td><td>Likely fetal</td></tr><tr><td><a href="https://loinc.org/LA18197-6/">LA18197-6</a></td><td>Unknown genomic origin</td></tr><tr><td><a href="https://loinc.org/LA26807-0/">LA26807-0</a></td><td>De novo</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/genomic-source-class-vs"/>
  <version value="2.0.0"/>
  <name value="GenomicSourceClassVS"/>
  <title value="Genomic Source Class Value Set"/>
  <status value="draft"/>
  <date value="2025-05-12T08:03:20+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 germline, somatic, fetal, etc."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA6683-2"/>
        <display value="Germline"/>
      </concept>
      <concept>
        <code value="LA6684-0"/>
        <display value="Somatic"/>
      </concept>
      <concept>
        <code value="LA10429-1"/>
        <display value="Fetal"/>
      </concept>
      <concept>
        <code value="LA18194-3"/>
        <display value="Likely germline"/>
      </concept>
      <concept>
        <code value="LA18195-0"/>
        <display value="Likely somatic"/>
      </concept>
      <concept>
        <code value="LA18196-8"/>
        <display value="Likely fetal"/>
      </concept>
      <concept>
        <code value="LA18197-6"/>
        <display value="Unknown genomic origin"/>
      </concept>
      <concept>
        <code value="LA26807-0"/>
        <display value="De novo"/>
      </concept>
    </include>
  </compose>
</ValueSet>