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 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 "dna-change-type-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 dna-change-type-vs</b></p><a name=\"dna-change-type-vs\"> </a><a name=\"hcdna-change-type-vs\"> </a><a name=\"dna-change-type-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/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>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "https://rarelink.bih-charite.de/fhir/ValueSet/dna-change-type-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "2.0.0"] ; # 
  fhir:name [ fhir:v "DNAChangeTypeVS"] ; # 
  fhir:title [ fhir:v "DNA Change Type 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 DNA change types."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "LA9658-1" ] ;
fhir:display [ fhir:v "Wild type" ]       ] [
fhir:code [ fhir:v "LA6692-3" ] ;
fhir:display [ fhir:v "Deletion" ]       ] [
fhir:code [ fhir:v "LA6686-5" ] ;
fhir:display [ fhir:v "Duplication" ]       ] [
fhir:code [ fhir:v "LA6687-3" ] ;
fhir:display [ fhir:v "Insertion" ]       ] [
fhir:code [ fhir:v "LA6688-1" ] ;
fhir:display [ fhir:v "Insertion/Deletion" ]       ] [
fhir:code [ fhir:v "LA6689-9" ] ;
fhir:display [ fhir:v "Inversion" ]       ] [
fhir:code [ fhir:v "LA6690-7" ] ;
fhir:display [ fhir:v "Substitution" ]       ] )     ] )
  ] . #