Resource CodeSystem/FHIR Server from package hl7.fhir.uv.phenomics-exchange#current (31 ms)

Resources that use this resource

ValueSet
KaryotypicSex	Karyotypic sex value set

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Narrative

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Source

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

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