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

: Age of Onset Value Set - TTL Representation

Draft as of 2025-05-12

Raw ttl | Download


@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 "age-of-onset-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 age-of-onset-vs</b></p><a name=\"age-of-onset-vs\"> </a><a name=\"hcage-of-onset-vs\"> </a><a name=\"age-of-onset-vs-en-US\"> </a><ul><li>Include these codes as defined in <code>http://purl.obolibrary.org/obo/hp.owl</code><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>HP:0011460</td><td>Embryonal onset (0w-8w embryonal)</td></tr><tr><td>HP:0011461</td><td>Fetal onset (8w embryonal - birth)</td></tr><tr><td>HP:0003577</td><td>Congenital onset (at birth)</td></tr><tr><td>HP:0003623</td><td>Neonatal onset (0d-28d)</td></tr><tr><td>HP:0003593</td><td>Infantile onset (28d-1y)</td></tr><tr><td>HP:0011463</td><td>Childhood onset (1y-5y)</td></tr><tr><td>HP:0003621</td><td>Juvenile onset (5y-15y)</td></tr><tr><td>HP:0011462</td><td>Young adult onset (16y-40y)</td></tr><tr><td>HP:0003596</td><td>Middle age adult onset (40y-60y)</td></tr><tr><td>HP:0003584</td><td>Late adult onset (60y+)</td></tr></table></li></ul></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "https://rarelink.bih-charite.de/fhir/ValueSet/age-of-onset-vs"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "2.0.0"] ; # 
  fhir:name [ fhir:v "AgeOfOnsetVS"] ; # 
  fhir:title [ fhir:v "Age of Onset 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 the age of onset for phenotypes."] ; # 
  fhir:compose [
    ( fhir:include [
fhir:system [ fhir:v "http://purl.obolibrary.org/obo/hp.owl"^^xsd:anyURI ] ;
      ( fhir:concept [
fhir:code [ fhir:v "HP:0011460" ] ;
fhir:display [ fhir:v "Embryonal onset (0w-8w embryonal)" ]       ] [
fhir:code [ fhir:v "HP:0011461" ] ;
fhir:display [ fhir:v "Fetal onset (8w embryonal - birth)" ]       ] [
fhir:code [ fhir:v "HP:0003577" ] ;
fhir:display [ fhir:v "Congenital onset (at birth)" ]       ] [
fhir:code [ fhir:v "HP:0003623" ] ;
fhir:display [ fhir:v "Neonatal onset (0d-28d)" ]       ] [
fhir:code [ fhir:v "HP:0003593" ] ;
fhir:display [ fhir:v "Infantile onset (28d-1y)" ]       ] [
fhir:code [ fhir:v "HP:0011463" ] ;
fhir:display [ fhir:v "Childhood onset (1y-5y)" ]       ] [
fhir:code [ fhir:v "HP:0003621" ] ;
fhir:display [ fhir:v "Juvenile onset (5y-15y)" ]       ] [
fhir:code [ fhir:v "HP:0011462" ] ;
fhir:display [ fhir:v "Young adult onset (16y-40y)" ]       ] [
fhir:code [ fhir:v "HP:0003596" ] ;
fhir:display [ fhir:v "Middle age adult onset (40y-60y)" ]       ] [
fhir:code [ fhir:v "HP:0003584" ] ;
fhir:display [ fhir:v "Late adult onset (60y+)" ]       ] )     ] )
  ] . #