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

: Clinical Significance Value Set - XML Representation

Draft as of 2025-05-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="clinical-significance-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet clinical-significance-vs</b></p><a name="clinical-significance-vs"> </a><a name="hcclinical-significance-vs"> </a><a name="clinical-significance-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/LA6668-3/">LA6668-3</a></td><td>Pathogenic</td></tr><tr><td><a href="https://loinc.org/LA26332-9/">LA26332-9</a></td><td>Likely pathogenic</td></tr><tr><td><a href="https://loinc.org/LA26333-7/">LA26333-7</a></td><td>Uncertain significance</td></tr><tr><td><a href="https://loinc.org/LA26334-5/">LA26334-5</a></td><td>Likely benign</td></tr><tr><td><a href="https://loinc.org/LA6675-8/">LA6675-8</a></td><td>Benign</td></tr><tr><td><a href="https://loinc.org/LA4489-6/">LA4489-6</a></td><td>Unknown</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/clinical-significance-vs"/>
  <version value="2.0.0"/>
  <name value="ClinicalSignificanceVS"/>
  <title value="Clinical Significance 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 for the clinical significance of a variant."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA6668-3"/>
        <display value="Pathogenic"/>
      </concept>
      <concept>
        <code value="LA26332-9"/>
        <display value="Likely pathogenic"/>
      </concept>
      <concept>
        <code value="LA26333-7"/>
        <display value="Uncertain significance"/>
      </concept>
      <concept>
        <code value="LA26334-5"/>
        <display value="Likely benign"/>
      </concept>
      <concept>
        <code value="LA6675-8"/>
        <display value="Benign"/>
      </concept>
      <concept>
        <code value="LA4489-6"/>
        <display value="Unknown"/>
      </concept>
    </include>
  </compose>
</ValueSet>