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

: Zygosity Value Set - TTL Representation

Draft as of 2025-06-03

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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 "zygosity-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 zygosity-vs</b></p><a name=\"zygosity-vs\"> </a><a name=\"hczygosity-vs\"> </a><a name=\"zygosity-vs-en-US\"> </a><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</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=\"https://loinc.org/LA6705-3/\">LA6705-3</a></td><td>Homozygous</td></tr><tr><td><a href=\"https://loinc.org/LA6706-1/\">LA6706-1</a></td><td>(simple) Heterozygous</td></tr><tr><td><a href=\"https://loinc.org/LA26217-2/\">LA26217-2</a></td><td>Compound heterozygous</td></tr><tr><td><a href=\"https://loinc.org/LA26220-6/\">LA26220-6</a></td><td>Double heterozygous</td></tr><tr><td><a href=\"https://loinc.org/LA6707-9/\">LA6707-9</a></td><td>Hemizygous</td></tr><tr><td><a href=\"https://loinc.org/LA6703-8/\">LA6703-8</a></td><td>Heteroplasmic</td></tr><tr><td><a href=\"https://loinc.org/LA6704-6/\">LA6704-6</a></td><td>Homoplasmic</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "https://rarelink.bih-charite.de/fhir/ValueSet/zygosity-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "2.0.0"] ; # 
  fhir:name [ fhir:v "ZygosityVS"] ; # 
  fhir:title [ fhir:v "Zygosity Value Set"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:date [ fhir:v "2025-06-03T09:15:35+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 "LOINC LA codes enumerating various zygosity states."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "LA6705-3" ] ;
fhir:display [ fhir:v "Homozygous" ]       ] [
fhir:code [ fhir:v "LA6706-1" ] ;
fhir:display [ fhir:v "(simple) Heterozygous" ]       ] [
fhir:code [ fhir:v "LA26217-2" ] ;
fhir:display [ fhir:v "Compound heterozygous" ]       ] [
fhir:code [ fhir:v "LA26220-6" ] ;
fhir:display [ fhir:v "Double heterozygous" ]       ] [
fhir:code [ fhir:v "LA6707-9" ] ;
fhir:display [ fhir:v "Hemizygous" ]       ] [
fhir:code [ fhir:v "LA6703-8" ] ;
fhir:display [ fhir:v "Heteroplasmic" ]       ] [
fhir:code [ fhir:v "LA6704-6" ] ;
fhir:display [ fhir:v "Homoplasmic" ]       ] )     ] )
  ] . #