NCPI FHIR Implementation Guide v2
0.2.0 - ci-build

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: Example condition assertion using data from GREGoR - TTL Representation

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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:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "GSS123456-condition-assertion"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-participant-assertion"^^xsd:anyURI ;
fhir:l <https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/ncpi-participant-assertion>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation GSS123456-condition-assertion</b></p><a name=\"GSS123456-condition-assertion\"> </a><a name=\"hcGSS123456-condition-assertion\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-ncpi-participant-assertion.html\">NCPI Participant Assertion</a></p></div><p><b>Part of Study</b>: <a href=\"ResearchStudy-research-study-gregor.html\">ResearchStudy: identifier = AnVIL_GREGoR_GSS_U08_GRU; status = completed</a></p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{https://nih-ncpi.github.io/ncpi-fhir-ig-2/CodeSystem/condition-type Disease}\">Disease</span></p><p><b>code</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0006951}\">retrocerebellar cyst</span></p><p><b>subject</b>: <a href=\"Patient-GSS123456.html\">Anonymous Patient (no stated gender), DoB Unknown ( https://anvil.terra.bio/#GSS123456)</a></p><p><b>value</b>: <span title=\"Codes:{https://nih-ncpi.github.io/ncpi-fhir-ig-2/CodeSystem/phenotypic-feature-assertion Present}\">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:\">otherModifiers</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:\">ageAtOnset</span></p><p><b>value</b>: 64 years<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  codea = 'a')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:\">otherModifiers</span></p><p><b>value</b>: <span title=\"Codes:{http://human-phenotype-ontology.org HP:0012832}\">HP:0012832</span></p></blockquote></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:extension ( [
fhir:url [
fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/part-of-study"^^xsd:anyURI ;
fhir:l <https://nih-ncpi.github.io/ncpi-fhir-ig-2/StructureDefinition/part-of-study>     ] ;
fhir:value [
a fhir:Reference ;
fhir:l fhir:ResearchStudy/research-study-gregor ;
fhir:reference [ fhir:v "ResearchStudy/research-study-gregor" ]     ]
  ] ) ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [
fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/CodeSystem/condition-type"^^xsd:anyURI ;
fhir:l <https://nih-ncpi.github.io/ncpi-fhir-ig-2/CodeSystem/condition-type>       ] ;
fhir:code [ fhir:v "Disease" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [
fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ;
fhir:l <http://human-phenotype-ontology.org>       ] ;
fhir:code [ fhir:v "HP:0006951" ]     ] ) ;
fhir:text [ fhir:v "retrocerebellar cyst" ]
  ] ; # 
  fhir:subject [
fhir:l fhir:Patient/GSS123456 ;
fhir:reference [ fhir:v "Patient/GSS123456" ]
  ] ; # 
  fhir:value [
a fhir:CodeableConcept ;
    ( fhir:coding [
fhir:system [
fhir:v "https://nih-ncpi.github.io/ncpi-fhir-ig-2/CodeSystem/phenotypic-feature-assertion"^^xsd:anyURI ;
fhir:l <https://nih-ncpi.github.io/ncpi-fhir-ig-2/CodeSystem/phenotypic-feature-assertion>       ] ;
fhir:code [ fhir:v "Present" ]     ] )
  ] ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
fhir:code [ fhir:v "otherModifiers" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:code [ fhir:v "ageAtOnset" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "64"^^xsd:decimal ] ;
fhir:unit [ fhir:v "years" ] ;
fhir:system [
fhir:v "http://unitsofmeasure.org"^^xsd:anyURI ;
fhir:l <http://unitsofmeasure.org>       ] ;
fhir:code [ fhir:v "a" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:code [ fhir:v "otherModifiers" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [
fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ;
fhir:l <http://human-phenotype-ontology.org>         ] ;
fhir:code [ fhir:v "HP:0012832" ]       ] )     ]
  ] ) . #