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

: Structural Variant Method Value Set - XML Representation

Draft as of 2025-05-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="structural-variant-method-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet structural-variant-method-vs</b></p><a name="structural-variant-method-vs"> </a><a name="hcstructural-variant-method-vs"> </a><a name="structural-variant-method-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/LA26406-1/">LA26406-1</a></td><td>Karyotyping</td></tr><tr><td><a href="https://loinc.org/LA26404-6/">LA26404-6</a></td><td>FISH</td></tr><tr><td><a href="https://loinc.org/LA26418-6/">LA26418-6</a></td><td>PCR</td></tr><tr><td><a href="https://loinc.org/LA26419-4/">LA26419-4</a></td><td>qPCR (real-time PCR)</td></tr><tr><td><a href="https://loinc.org/LA26400-4/">LA26400-4</a></td><td>SNP array</td></tr><tr><td><a href="https://loinc.org/LA26813-8/">LA26813-8</a></td><td>Restriction fragment length polymorphism (RFLP)</td></tr><tr><td><a href="https://loinc.org/LA26810-4/">LA26810-4</a></td><td>DNA hybridization</td></tr><tr><td><a href="https://loinc.org/LA26398-0/">LA26398-0</a></td><td>Sequencing</td></tr><tr><td><a href="https://loinc.org/LA26415-2/">LA26415-2</a></td><td>MLPA</td></tr><tr><td><a href="https://loinc.org/LA46-8/">LA46-8</a></td><td>Other</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/structural-variant-method-vs"/>
  <version value="2.0.0"/>
  <name value="StructuralVariantMethodVS"/>
  <title value="Structural Variant Method 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 methods for detecting structural variants."/>
  <compose>
    <include>
      <system value="http://loinc.org"/>
      <concept>
        <code value="LA26406-1"/>
        <display value="Karyotyping"/>
      </concept>
      <concept>
        <code value="LA26404-6"/>
        <display value="FISH"/>
      </concept>
      <concept>
        <code value="LA26418-6"/>
        <display value="PCR"/>
      </concept>
      <concept>
        <code value="LA26419-4"/>
        <display value="qPCR (real-time PCR)"/>
      </concept>
      <concept>
        <code value="LA26400-4"/>
        <display value="SNP array"/>
      </concept>
      <concept>
        <code value="LA26813-8"/>
        <display value="Restriction fragment length polymorphism (RFLP)"/>
      </concept>
      <concept>
        <code value="LA26810-4"/>
        <display value="DNA hybridization"/>
      </concept>
      <concept>
        <code value="LA26398-0"/>
        <display value="Sequencing"/>
      </concept>
      <concept>
        <code value="LA26415-2"/>
        <display value="MLPA"/>
      </concept>
      <concept>
        <code value="LA46-8"/>
        <display value="Other"/>
      </concept>
    </include>
  </compose>
</ValueSet>