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

: Karyotypic Sex Value Set - XML Representation

Draft as of 2025-05-12

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="karyotypic-sex-vs"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet karyotypic-sex-vs</b></p><a name="karyotypic-sex-vs"> </a><a name="hckaryotypic-sex-vs"> </a><a name="karyotypic-sex-vs-en-US"> </a><ul><li>Include these codes as defined in <a href="http://www.snomed.org/"><code>http://snomed.info/sct</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="http://snomed.info/id/261665006">261665006</a></td><td>Unknown</td></tr><tr><td><a href="http://snomed.info/id/734875008">734875008</a></td><td>XX</td></tr><tr><td><a href="http://snomed.info/id/734876009">734876009</a></td><td>XY</td></tr><tr><td><a href="http://snomed.info/id/80427008">80427008</a></td><td>X0</td></tr><tr><td><a href="http://snomed.info/id/65162001">65162001</a></td><td>XXY</td></tr><tr><td><a href="http://snomed.info/id/35111009">35111009</a></td><td>XXX</td></tr><tr><td><a href="http://snomed.info/id/403760006">403760006</a></td><td>XXYY</td></tr><tr><td><a href="http://snomed.info/id/78317008">78317008</a></td><td>XXXY</td></tr><tr><td><a href="http://snomed.info/id/10567003">10567003</a></td><td>XXXX</td></tr><tr><td><a href="http://snomed.info/id/48930007">48930007</a></td><td>XYY</td></tr><tr><td><a href="http://snomed.info/id/74964007">74964007</a></td><td>Other</td></tr></table></li></ul></div>
  </text>
  <url
       value="https://rarelink.bih-charite.de/fhir/ValueSet/karyotypic-sex-vs"/>
  <version value="2.0.0"/>
  <name value="KaryotypicSexVS"/>
  <title value="Karyotypic Sex 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="Value set for capturing karyotypic sex."/>
  <compose>
    <include>
      <system value="http://snomed.info/sct"/>
      <concept>
        <code value="261665006"/>
        <display value="Unknown"/>
      </concept>
      <concept>
        <code value="734875008"/>
        <display value="XX"/>
      </concept>
      <concept>
        <code value="734876009"/>
        <display value="XY"/>
      </concept>
      <concept>
        <code value="80427008"/>
        <display value="X0"/>
      </concept>
      <concept>
        <code value="65162001"/>
        <display value="XXY"/>
      </concept>
      <concept>
        <code value="35111009"/>
        <display value="XXX"/>
      </concept>
      <concept>
        <code value="403760006"/>
        <display value="XXYY"/>
      </concept>
      <concept>
        <code value="78317008"/>
        <display value="XXXY"/>
      </concept>
      <concept>
        <code value="10567003"/>
        <display value="XXXX"/>
      </concept>
      <concept>
        <code value="48930007"/>
        <display value="XYY"/>
      </concept>
      <concept>
        <code value="74964007"/>
        <display value="Other"/>
      </concept>
    </include>
  </compose>
</ValueSet>