Phenomics Exchange for Research and Diagnostics
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Phenomics Exchange for Research and Diagnostics, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 0.1.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/phenomics-exchange-ig/ and changes regularly. See the Directory of published versions

: An INVALID phenotypic abnormality Observation example. - TTL Representation

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@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:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "phenotypic-abnormality-invalid-1"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation </b><a name=\"phenotypic-abnormality-invalid-1\"> </a><a name=\"hcphenotypic-abnormality-invalid-1\"> </a></p><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\">ResourceObservation &quot;phenotypic-abnormality-invalid-1&quot; </p></div><p><b>status</b>: final</p><p><b>code</b>: Intellectual disability <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0001249)</span></p><p><b>value</b>: true</p><blockquote><p><b>component</b></p><p><b>code</b>: Severity <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012824)</span></p><p><b>value</b>: Mild <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012825)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Severity <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012824)</span></p><p><b>value</b>: Mild <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012825)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Clinical modifier <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012823)</span></p><p><b>value</b>: Worse in evening <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0410401)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Clinical modifier <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012823)</span></p><p><b>value</b>: Refractory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0031375)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Clinical modifier <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0012823)</span></p><p><b>value</b>: Non existant modifier <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:999999999)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Onset <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0003674)</span></p><p><b>value</b>: Congenital onset <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0003577)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Onset <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.5.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0003674)</span></p><p><b>value</b>: 0 Day<span style=\"background: LightGoldenRodYellow\"> (Details: system  codeDay = 'Day')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Severity <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (OTHER#OTHER)</span></p><p><b>value</b>: Mild <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (OTHER#OTHERTHING)</span></p></blockquote></div>"
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0001249" ] ;
fhir:display [ fhir:v "Intellectual disability" ]     ] ) ;
fhir:text [ fhir:v "Intellectual disability" ]
  ] ; # 
  fhir:value [ fhir:v "true"^^xsd:boolean] ; # 
  fhir:component ( [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012824" ] ;
fhir:display [ fhir:v "Severity" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012825" ] ;
fhir:display [ fhir:v "Mild" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012824" ] ;
fhir:display [ fhir:v "Severity" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012825" ] ;
fhir:display [ fhir:v "Mild" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012823" ] ;
fhir:display [ fhir:v "Clinical modifier" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0410401" ] ;
fhir:display [ fhir:v "Worse in evening" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012823" ] ;
fhir:display [ fhir:v "Clinical modifier" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0031375" ] ;
fhir:display [ fhir:v "Refractory" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0012823" ] ;
fhir:display [ fhir:v "Clinical modifier" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:999999999" ] ;
fhir:display [ fhir:v "Non existant modifier" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0003674" ] ;
fhir:display [ fhir:v "Onset" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0003577" ] ;
fhir:display [ fhir:v "Congenital onset" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0003674" ] ;
fhir:display [ fhir:v "Onset" ]       ] )     ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "0"^^xsd:decimal ] ;
fhir:unit [ fhir:v "Day" ] ;
fhir:system [ fhir:v "http://some/unit/system"^^xsd:anyURI ] ;
fhir:code [ fhir:v "Day" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://github.com/phenopackets/core-ig/CodeSystem/OTHER"^^xsd:anyURI ] ;
fhir:code [ fhir:v "OTHER" ] ;
fhir:display [ fhir:v "Severity" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://github.com/phenopackets/core-ig/CodeSystem/OTHER"^^xsd:anyURI ] ;
fhir:code [ fhir:v "OTHERTHING" ] ;
fhir:display [ fhir:v "Mild" ]       ] )     ]
  ] ) . #