Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

: Molecular Consequence Value Set - TTL Representation

Active as of 2024-12-12

Raw ttl | Download


@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 -------------------------------------------------------------------

 a fhir:ValueSet ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "molecular-consequence-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 molecular-consequence-vs</b></p><a name=\"molecular-consequence-vs\"> </a><a name=\"hcmolecular-consequence-vs\"> </a><a name=\"molecular-consequence-vs-en-US\"> </a><ul><li>Include codes from<a href=\"http://terminology.hl7.org/6.1.0/CodeSystem-SO.html\"><code>http://www.sequenceontology.org</code></a> where concept  is-a SO:0001537</li></ul></div>"
  ] ; # 
  fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/structuredefinition-wg"^^xsd:anyURI ] ;
fhir:value [ fhir:v "cg" ]
  ] ) ; # 
  fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/ValueSet/molecular-consequence-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "3.0.0"] ; # 
  fhir:name [ fhir:v "MolecularConsequenceVS"] ; # 
  fhir:title [ fhir:v "Molecular Consequence Value Set"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v "false"^^xsd:boolean] ; # 
  fhir:date [ fhir:v "2024-12-12T21:16:09+00:00"^^xsd:dateTime] ; # 
  fhir:publisher [ fhir:v "HL7 International / Clinical Genomics"] ; # 
  fhir:contact ( [
fhir:name [ fhir:v "HL7 International / Clinical Genomics" ] ;
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "http://www.hl7.org/Special/committees/clingenomics" ]     ] [
fhir:system [ fhir:v "email" ] ;
fhir:value [ fhir:v "cg@lists.HL7.org" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "The calculated or observed effect of a variant on its downstream transcript and, if applicable, ensuing protein sequence."] ; # 
  fhir:jurisdiction ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://unstats.un.org/unsd/methods/m49/m49.htm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "001" ] ;
fhir:display [ fhir:v "World" ]     ] )
  ] ) ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ] ;
      ( fhir:filter [
fhir:property [ fhir:v "concept" ] ;
fhir:op [ fhir:v "is-a" ] ;
fhir:value [ fhir:v "SO:0001537" ]       ] )     ] )
  ] . #