Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: obs-idh-ex - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@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 "obs-idh-ex"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication>     ] )
  ] ; # 
  fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"obs-idh-ex\"> </a><a name=\"hcobs-idh-ex\"> </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\">Resource Observation &quot;obs-idh-ex&quot; </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Diagnostic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#diagnostic-implication)</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Patient/HG00403</a> &quot; EVERYONE&quot;</p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization/ExampleLab</a> &quot;Some lab&quot;</p><p><b>derivedFrom</b>: <a href=\"Observation-SNVexample.html\">Observation/SNVexample</a></p><blockquote><p><b>component</b></p><p><b>Related Artifact for Observation component</b>: </p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#53037-8)</span></p><p><b>value</b>: Pathogenic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6668-3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Prob assoc phenotype <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81259-4)</span></p><p><b>value</b>: Cystic fibrosis <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-MONDO.html\">Mondo Disease Ontology</a>#MONDO:0009061 &quot;cystic fibrosis&quot;)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Condition Inheritance <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#condition-inheritance)</span></p><p><b>value</b>: Autosomal recessive inheritance <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-HPO.html\">Human Phenotype Ontology</a>#HP:0000007)</span></p></blockquote></div>"
  ] ; # 
  fhir:status [ fhir:v "final"] ; # 
  fhir:category ( [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ]     ] )
  ] [
    ( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
fhir:code [ fhir:v "GE" ]     ] )
  ] ) ; # 
  fhir:code [
    ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "diagnostic-implication" ] ;
fhir:display [ fhir:v "Diagnostic Implication" ]     ] )
  ] ; # 
  fhir:subject [
fhir:reference [ fhir:v "Patient/HG00403" ]
  ] ; # 
  fhir:effective [ fhir:v "2023-06-01"^^xsd:date] ; # 
  fhir:performer ( [
fhir:reference [ fhir:v "Organization/ExampleLab" ]
  ] ) ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "Observation/SNVexample" ]
  ] ) ; # 
  fhir:component ( [
    ( fhir:extension [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/related-artifact-component"^^xsd:anyURI ] ;
fhir:value [
a fhir:RelatedArtifact ;
fhir:type [ fhir:v "citation" ] ;
fhir:url [ fhir:v "https://www.ncbi.nlm.nih.gov/clinvar/variation/53685/#clinical-assertions"^^xsd:anyURI ]       ]     ] ) ;
fhir:code [
      ( fhir:coding [
a loinc:53037-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "53037-8" ] ;
fhir:display [ fhir:v "Genetic variation clinical significance [Imp]" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a loinc:LA6668-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6668-3" ] ;
fhir:display [ fhir:v "Pathogenic" ]       ] )     ]
  ] [
fhir:code [
      ( fhir:coding [
a loinc:81259-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81259-4" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://purl.obolibrary.org/obo/mondo.owl"^^xsd:anyURI ] ;
fhir:code [ fhir:v "MONDO:0009061" ] ;
fhir:display [ fhir:v "cystic fibrosis" ]       ] ) ;
fhir:text [ fhir:v "Cystic fibrosis" ]     ]
  ] [
fhir:code [
      ( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "condition-inheritance" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
fhir:system [ fhir:v "http://human-phenotype-ontology.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HP:0000007" ] ;
fhir:display [ fhir:v "Autosomal recessive inheritance" ]       ] )     ]
  ] ) . #