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

: Reference Genome Value Set - XML Representation

Draft as of 2025-05-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="reference-genome-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet reference-genome-vs</b></p><a name="reference-genome-vs"> </a><a name="hcreference-genome-vs"> </a><a name="reference-genome-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/LA14032-9/">LA14032-9</a></td><td>NCBI Build 34 (hg16)</td></tr><tr><td><a href="https://loinc.org/LA14029-5/">LA14029-5</a></td><td>GRCh37 (hg19)</td></tr><tr><td><a href="https://loinc.org/LA14030-3/">LA14030-3</a></td><td>NCBI Build 36.1 (hg18)</td></tr><tr><td><a href="https://loinc.org/LA14031-1/">LA14031-1</a></td><td>NCBI Build 35 (hg17)</td></tr><tr><td><a href="https://loinc.org/LA26806-2/">LA26806-2</a></td><td>GRCh38 (hg38)</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/reference-genome-vs"/>
  <version value="2.0.0"/>
  <name value="ReferenceGenomeVS"/>
  <title value="Reference Genome 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 specifying the reference genome build."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA14032-9"/>
        <display value="NCBI Build 34 (hg16)"/>
      </concept>
      <concept>
        <code value="LA14029-5"/>
        <display value="GRCh37 (hg19)"/>
      </concept>
      <concept>
        <code value="LA14030-3"/>
        <display value="NCBI Build 36.1 (hg18)"/>
      </concept>
      <concept>
        <code value="LA14031-1"/>
        <display value="NCBI Build 35 (hg17)"/>
      </concept>
      <concept>
        <code value="LA26806-2"/>
        <display value="GRCh38 (hg38)"/>
      </concept>
    </include>
  </compose>
</ValueSet>