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

: Undiagnosed Rare Disease Case Value Set - TTL Representation

Draft as of 2025-05-12

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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 "undiagnosed-rd-case-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 undiagnosed-rd-case-vs</b></p><a name=\"undiagnosed-rd-case-vs\"> </a><a name=\"hcundiagnosed-rd-case-vs\"> </a><a name=\"undiagnosed-rd-case-vs-en-US\"> </a><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <code>http://www.orpha.net/ORDO</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>616874</td><td>Rare disorder without a determined diagnosis after full investigation</td></tr></table></li><li>Include these codes as defined in <a href=\"http://www.snomed.org/\"><code>http://snomed.info/sct</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=\"http://snomed.info/id/373067005\">373067005</a></td><td>A Rare Disease was diagnosed</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "https://rarelink.bih-charite.de/fhir/ValueSet/undiagnosed-rd-case-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "2.0.0"] ; # 
  fhir:name [ fhir:v "UndiagnosedRDCaseVS"] ; # 
  fhir:title [ fhir:v "Undiagnosed Rare Disease Case Value Set"] ; # 
  fhir:status [ fhir:v "draft"] ; # 
  fhir:date [ fhir:v "2025-05-12T08:03:20+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 "Value set for capturing undiagnosed rare disease cases."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://www.orpha.net/ORDO"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "616874" ] ;
fhir:display [ fhir:v "Rare disorder without a determined diagnosis after full investigation" ]       ] )     ] [
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "373067005" ] ;
fhir:display [ fhir:v "A Rare Disease was diagnosed" ]       ] )     ] )
  ] . #