Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

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: Karyotypic sex code system - XML Representation

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="KaryotypicSex"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSex</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap">UNKNOWN_KARYOTYPE<a name="KaryotypicSex-UNKNOWN_KARYOTYPE"> </a></td><td>UNKNOWN_KARYOTYPE</td><td>Untyped or inconclusive karyotyping</td></tr><tr><td style="white-space:nowrap">XX<a name="KaryotypicSex-XX"> </a></td><td>XX karyotypic sex</td><td>Karyotype with two X chromosomes</td></tr><tr><td style="white-space:nowrap">XY<a name="KaryotypicSex-XY"> </a></td><td>XY karyotypic sex</td><td>Karyotype with one X chromosome and one Y chromosome</td></tr><tr><td style="white-space:nowrap">XO<a name="KaryotypicSex-XO"> </a></td><td>XO karyotypic sex</td><td>Karyotype with one X chromosome</td></tr><tr><td style="white-space:nowrap">XXY<a name="KaryotypicSex-XXY"> </a></td><td>XXY karyotypic sex</td><td>Karyotype with two X chromosomes and one Y chromosome</td></tr><tr><td style="white-space:nowrap">XXX<a name="KaryotypicSex-XXX"> </a></td><td>XXX karyotypic sex</td><td>Karyotype with three X chromosomes</td></tr><tr><td style="white-space:nowrap">XXYY<a name="KaryotypicSex-XXYY"> </a></td><td>XXYY karyotypic sex</td><td>Karyotype with two X chromosomes and two Y chromosomes</td></tr><tr><td style="white-space:nowrap">XXXY<a name="KaryotypicSex-XXXY"> </a></td><td>XXXY karyotypic sex</td><td>Karyotype with three X chromosomes and one Y chromosome</td></tr><tr><td style="white-space:nowrap">XXXX<a name="KaryotypicSex-XXXX"> </a></td><td>XXXX karyotypic sex</td><td>Karyotype with four X chromosomes</td></tr><tr><td style="white-space:nowrap">XYY<a name="KaryotypicSex-XYY"> </a></td><td>XYY karyotypic sex</td><td>Karyotype with one X chromosome and two Y chromosomes</td></tr><tr><td style="white-space:nowrap">OTHER_KARYOTYPE<a name="KaryotypicSex-OTHER_KARYOTYPE"> </a></td><td>Other karyotype</td><td>Karyotype with sex chromosomes other than XX,XY,X0,XXY,XXX,XXYY,XXXY,XXXX, or XYY</td></tr></table></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cic"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/phenomics-exchange/CodeSystem/KaryotypicSex"/>
  <version value="0.1.0"/>
  <name value="KaryotypicSexCS"/>
  <title value="Karyotypic sex code system"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2021-05-28T17:06:00-04:00"/>
  <publisher value="HL7 International / Clinical Interoperability Council"/>
  <contact>
    <name value="HL7 International / Clinical Interoperability Council"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/cic"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="cic@lists.HL7.org"/>
    </telecom>
  </contact>
  <description
               value="karyotypic sex of an individual (also known as chromosomal sex)"/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <copyright
             value="[Global Alliance for Genomics and Health](https://www.ga4gh.org)"/>
  <caseSensitive value="true"/>
  <content value="complete"/>
  <count value="11"/>
  <concept>
    <code value="UNKNOWN_KARYOTYPE"/>
    <display value="UNKNOWN_KARYOTYPE"/>
    <definition value="Untyped or inconclusive karyotyping"/>
  </concept>
  <concept>
    <code value="XX"/>
    <display value="XX karyotypic sex"/>
    <definition value="Karyotype with two X chromosomes"/>
  </concept>
  <concept>
    <code value="XY"/>
    <display value="XY karyotypic sex"/>
    <definition value="Karyotype with one X chromosome and one Y chromosome"/>
  </concept>
  <concept>
    <code value="XO"/>
    <display value="XO karyotypic sex"/>
    <definition value="Karyotype with one X chromosome"/>
  </concept>
  <concept>
    <code value="XXY"/>
    <display value="XXY karyotypic sex"/>
    <definition
                value="Karyotype with two X chromosomes and one Y chromosome"/>
  </concept>
  <concept>
    <code value="XXX"/>
    <display value="XXX karyotypic sex"/>
    <definition value="Karyotype with three X chromosomes"/>
  </concept>
  <concept>
    <code value="XXYY"/>
    <display value="XXYY karyotypic sex"/>
    <definition
                value="Karyotype with two X chromosomes and two Y chromosomes"/>
  </concept>
  <concept>
    <code value="XXXY"/>
    <display value="XXXY karyotypic sex"/>
    <definition
                value="Karyotype with three X chromosomes and one Y chromosome"/>
  </concept>
  <concept>
    <code value="XXXX"/>
    <display value="XXXX karyotypic sex"/>
    <definition value="Karyotype with four X chromosomes"/>
  </concept>
  <concept>
    <code value="XYY"/>
    <display value="XYY karyotypic sex"/>
    <definition
                value="Karyotype with one X chromosome and two Y chromosomes"/>
  </concept>
  <concept>
    <code value="OTHER_KARYOTYPE"/>
    <display value="Other karyotype"/>
    <definition
                value="Karyotype with sex chromosomes other than XX,XY,X0,XXY,XXX,XXYY,XXXY,XXXX, or XYY"/>
  </concept>
</CodeSystem>