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 2026-08-01

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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 -------------------------------------------------------------------

<http://hl7.org/fhir/ValueSet/zygosity-vs> a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "zygosity-vs"] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.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><ul><li>Include these codes as defined in <a href=\"http://loinc.org\"><code>http://loinc.org</code></a><span title=\"Version is not explicitly stated. No matching Code System found\"> version Not Stated (use latest from terminology server)</span><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>"
  ] ;
  fhir:ValueSet.url [ fhir:value "https://rarelink.bih-charite.de/fhir/ValueSet/zygosity-vs"] ;
  fhir:ValueSet.version [ fhir:value "2.0.0"] ;
  fhir:ValueSet.name [ fhir:value "ZygosityVS"] ;
  fhir:ValueSet.title [ fhir:value "Zygosity Value Set"] ;
  fhir:ValueSet.status [ fhir:value "draft"] ;
  fhir:ValueSet.date [ fhir:value "2026-08-01T16:27:48+00:00"^^xsd:dateTime] ;
  fhir:ValueSet.publisher [ fhir:value "Berlin Institute of Health - Charité Universitätsmedizin Berlin"] ;
  fhir:ValueSet.contact [
     fhir:index 0 ;
     fhir:ContactDetail.name [ fhir:value "Berlin Institute of Health - Charité Universitätsmedizin Berlin" ] ;
     fhir:ContactDetail.telecom [
       fhir:index 0 ;
       fhir:ContactPoint.system [ fhir:value "url" ] ;
       fhir:ContactPoint.value [ fhir:value "https://github.com/BIH-CEI/RareLink" ]
     ], [
       fhir:index 1 ;
       fhir:ContactPoint.system [ fhir:value "email" ] ;
       fhir:ContactPoint.value [ fhir:value "adam.graefe@charite.de" ]
     ]
  ] ;
  fhir:ValueSet.description [ fhir:value "LOINC LA codes enumerating various zygosity states."] ;
  fhir:ValueSet.compose [
     fhir:ValueSet.compose.include [
       fhir:index 0 ;
       fhir:ValueSet.compose.include.system [ fhir:value "http://loinc.org" ] ;
       fhir:ValueSet.compose.include.concept [
         fhir:index 0 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6705-3" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Homozygous" ]
       ], [
         fhir:index 1 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6706-1" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "(simple) Heterozygous" ]
       ], [
         fhir:index 2 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA26217-2" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Compound heterozygous" ]
       ], [
         fhir:index 3 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA26220-6" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Double heterozygous" ]
       ], [
         fhir:index 4 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6707-9" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Hemizygous" ]
       ], [
         fhir:index 5 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6703-8" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Heteroplasmic" ]
       ], [
         fhir:index 6 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6704-6" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Homoplasmic" ]
       ]
     ]
  ] .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/ValueSet/zygosity-vs.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/ValueSet/zygosity-vs.ttl> .