Phenomics Exchange for Research and Diagnostics
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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

: Karyotypic sex code system - TTL Representation

Draft as of 2021-05-28

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

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