North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

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: Genomic Report Ovarian Carcinoma Diagnostic Implication Example - 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 rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Observation ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "m2-diagnostic-implication"] ; # 
  fhir:meta [
    ( fhir:profile [
fhir:v "https://nw-gmsa.github.io/StructureDefinition/Observation-DiagnosticImplication"^^xsd:anyURI ;
fhir:link <https://nw-gmsa.github.io/StructureDefinition/Observation-DiagnosticImplication>     ] )
  ] ; # 
  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: Observation m2-diagnostic-implication</b></p><a name=\"m2-diagnostic-implication\"> </a><a name=\"hcm2-diagnostic-implication\"> </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-Observation-DiagnosticImplication.html\">Observation Diagnostic Implication</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd\">Octavia CHISLETT</a></p><p><b>derivedFrom</b>: <a href=\"Observation-brca1-variant.html\">BRCA1</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{http://snomed.info/sct 307726001}, {https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory M2}\">Anaemia in ovarian carcinoma</span></p></blockquote></div>"^^rdf:XMLLiteral
  ] ; # 
  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:subject [
fhir:reference [ fhir:v "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd" ] ;
fhir:identifier [
fhir:system [ fhir:v "https://fhir.nhs.uk/Id/nhs-number"^^xsd:anyURI ] ;
fhir:value [ fhir:v "9449305552" ]     ] ;
fhir:display [ fhir:v "Octavia CHISLETT" ]
  ] ; # 
  fhir:derivedFrom ( [
fhir:reference [ fhir:v "Observation/brca1-variant" ] ;
fhir:display [ fhir:v "BRCA1" ]
  ] ) ; # 
  fhir:component ( [
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:display [ fhir:v "Associated phenotype" ]       ] )     ] ;
fhir:value [
a fhir:CodeableConcept ;
      ( fhir:coding [
a sct:307726001 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "307726001" ] ;
fhir:display [ fhir:v "Anaemia in ovarian carcinoma" ]       ] [
fhir:system [ fhir:v "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"^^xsd:anyURI ] ;
fhir:code [ fhir:v "M2" ] ;
fhir:display [ fhir:v "Ovarian Carcinoma" ]       ] )     ]
  ] ) . #