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

: Genomic Source Class 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/genomic-source-class-vs> a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "genomic-source-class-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 genomic-source-class-vs</b></p><a name=\"genomic-source-class-vs\"> </a><a name=\"hcgenomic-source-class-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/LA6683-2/\">LA6683-2</a></td><td>Germline</td></tr><tr><td><a href=\"https://loinc.org/LA6684-0/\">LA6684-0</a></td><td>Somatic</td></tr><tr><td><a href=\"https://loinc.org/LA10429-1/\">LA10429-1</a></td><td>Fetal</td></tr><tr><td><a href=\"https://loinc.org/LA18194-3/\">LA18194-3</a></td><td>Likely germline</td></tr><tr><td><a href=\"https://loinc.org/LA18195-0/\">LA18195-0</a></td><td>Likely somatic</td></tr><tr><td><a href=\"https://loinc.org/LA18196-8/\">LA18196-8</a></td><td>Likely fetal</td></tr><tr><td><a href=\"https://loinc.org/LA18197-6/\">LA18197-6</a></td><td>Unknown genomic origin</td></tr><tr><td><a href=\"https://loinc.org/LA26807-0/\">LA26807-0</a></td><td>De novo</td></tr></table></li></ul></div>"
  ] ;
  fhir:ValueSet.url [ fhir:value "https://rarelink.bih-charite.de/fhir/ValueSet/genomic-source-class-vs"] ;
  fhir:ValueSet.version [ fhir:value "2.0.0"] ;
  fhir:ValueSet.name [ fhir:value "GenomicSourceClassVS"] ;
  fhir:ValueSet.title [ fhir:value "Genomic Source Class 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 germline, somatic, fetal, etc."] ;
  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 "LA6683-2" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Germline" ]
       ], [
         fhir:index 1 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6684-0" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Somatic" ]
       ], [
         fhir:index 2 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA10429-1" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Fetal" ]
       ], [
         fhir:index 3 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA18194-3" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Likely germline" ]
       ], [
         fhir:index 4 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA18195-0" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Likely somatic" ]
       ], [
         fhir:index 5 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA18196-8" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Likely fetal" ]
       ], [
         fhir:index 6 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA18197-6" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Unknown genomic origin" ]
       ], [
         fhir:index 7 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA26807-0" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "De novo" ]
       ]
     ]
  ] .

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

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