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

: DNA Change Type 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/dna-change-type-vs> a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "dna-change-type-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 dna-change-type-vs</b></p><a name=\"dna-change-type-vs\"> </a><a name=\"hcdna-change-type-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/LA9658-1/\">LA9658-1</a></td><td>Wild type</td></tr><tr><td><a href=\"https://loinc.org/LA6692-3/\">LA6692-3</a></td><td>Deletion</td></tr><tr><td><a href=\"https://loinc.org/LA6686-5/\">LA6686-5</a></td><td>Duplication</td></tr><tr><td><a href=\"https://loinc.org/LA6687-3/\">LA6687-3</a></td><td>Insertion</td></tr><tr><td><a href=\"https://loinc.org/LA6688-1/\">LA6688-1</a></td><td>Insertion/Deletion</td></tr><tr><td><a href=\"https://loinc.org/LA6689-9/\">LA6689-9</a></td><td>Inversion</td></tr><tr><td><a href=\"https://loinc.org/LA6690-7/\">LA6690-7</a></td><td>Substitution</td></tr></table></li></ul></div>"
  ] ;
  fhir:ValueSet.url [ fhir:value "https://rarelink.bih-charite.de/fhir/ValueSet/dna-change-type-vs"] ;
  fhir:ValueSet.version [ fhir:value "2.0.0"] ;
  fhir:ValueSet.name [ fhir:value "DNAChangeTypeVS"] ;
  fhir:ValueSet.title [ fhir:value "DNA Change Type 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 DNA change types."] ;
  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 "LA9658-1" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Wild type" ]
       ], [
         fhir:index 1 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6692-3" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Deletion" ]
       ], [
         fhir:index 2 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6686-5" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Duplication" ]
       ], [
         fhir:index 3 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6687-3" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Insertion" ]
       ], [
         fhir:index 4 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6688-1" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Insertion/Deletion" ]
       ], [
         fhir:index 5 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6689-9" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Inversion" ]
       ], [
         fhir:index 6 ;
         fhir:ValueSet.compose.include.concept.code [ fhir:value "LA6690-7" ] ;
         fhir:ValueSet.compose.include.concept.display [ fhir:value "Substitution" ]
       ]
     ]
  ] .

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

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