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 - TTL Representation

Draft as of 2025-05-12

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "karyotypic-sex-vs"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "https://rarelink.bih-charite.de/fhir/ValueSet/karyotypic-sex-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "2.0.0"] ; # 
  fhir:name [ fhir:v "KaryotypicSexVS"] ; # 
  fhir:title [ fhir:v "Karyotypic Sex Value Set"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:date [ fhir:v "2025-05-12T08:03:20+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "Berlin Institute of Health - Charité Universitätsmedizin Berlin"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "Berlin Institute of Health - Charité Universitätsmedizin Berlin" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://github.com/BIH-CEI/RareLink" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "adam.graefe@charite.de" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "Value set for capturing karyotypic sex."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "261665006" ] ;
fhir:display [ fhir:v "Unknown" ]       ] [
fhir:code [ fhir:v "734875008" ] ;
fhir:display [ fhir:v "XX" ]       ] [
fhir:code [ fhir:v "734876009" ] ;
fhir:display [ fhir:v "XY" ]       ] [
fhir:code [ fhir:v "80427008" ] ;
fhir:display [ fhir:v "X0" ]       ] [
fhir:code [ fhir:v "65162001" ] ;
fhir:display [ fhir:v "XXY" ]       ] [
fhir:code [ fhir:v "35111009" ] ;
fhir:display [ fhir:v "XXX" ]       ] [
fhir:code [ fhir:v "403760006" ] ;
fhir:display [ fhir:v "XXYY" ]       ] [
fhir:code [ fhir:v "78317008" ] ;
fhir:display [ fhir:v "XXXY" ]       ] [
fhir:code [ fhir:v "10567003" ] ;
fhir:display [ fhir:v "XXXX" ]       ] [
fhir:code [ fhir:v "48930007" ] ;
fhir:display [ fhir:v "XYY" ]       ] [
fhir:code [ fhir:v "74964007" ] ;
fhir:display [ fhir:v "Other" ]       ] )     ] )
  ] . #