Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: FindSubjectTxImplicationsOutput - 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:Parameters ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "FindSubjectTxImplicationsOutput"] ; # 
  fhir:parameter ( [
fhir:name [ fhir:v "implication" ] ;
    ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "TherapeuticImplicationExample" ] ;
fhir:meta [
        ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication>         ] )       ] ;
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Therapeutic Implication</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 "therapeutic-implication" ]         ] )       ] ;
fhir:subject [
fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
fhir:effective [ fhir:v "2023-07-01"^^xsd:date ] ;
      ( fhir:performer [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
      ( fhir:derivedFrom [
fhir:reference [ fhir:v "Observation/VariantExample" ]       ] ) ;
      ( fhir:component [
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 "therapeutic-implication" ]           ] )         ] ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
a loinc:LA6677-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6677-4" ] ;
fhir:display [ fhir:v "Responsive" ]           ] )         ]       ] [
fhir:code [
          ( fhir:coding [
a loinc:51963-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "51963-7" ] ;
fhir:display [ fhir:v "Medication assessed" ]           ] )         ] ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
fhir:system [ fhir:v "http://www.nlm.nih.gov/research/umls/rxnorm"^^xsd:anyURI ] ;
fhir:code [ fhir:v "480167" ] ;
fhir:display [ fhir:v "Lapatinib" ]           ] )         ]       ] )     ] )
  ] [
fhir:name [ fhir:v "variant" ] ;
    ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "variantExample" ] ;
fhir:meta [
        ( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>         ] )       ] ;
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</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 [
a loinc:69548-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69548-6" ] ;
fhir:display [ fhir:v "Genetic variant assessment" ]         ] )       ] ;
fhir:subject [
fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
fhir:effective [ fhir:v "2023-07-01"^^xsd:date ] ;
      ( fhir:performer [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
fhir:value [
a fhir:CodeableConcept ;
        ( fhir:coding [
a loinc:LA9633-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA9633-4" ] ;
fhir:display [ fhir:v "Present" ]         ] )       ] ;
      ( fhir:component [
fhir:code [
          ( fhir:coding [
a loinc:48002-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48002-0" ] ;
fhir:display [ fhir:v "Genomic source class [Type]" ]           ] )         ] ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
a loinc:LA6684-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6684-0" ] ;
fhir:display [ fhir:v "Somatic" ]           ] )         ]       ] [
fhir:code [
          ( fhir:coding [
a loinc:48013-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48013-7" ] ;
fhir:display [ fhir:v "Genomic reference sequence ID" ]           ] )         ] ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/refseq"^^xsd:anyURI ] ;
fhir:code [ fhir:v "NC_000017.11" ]           ] )         ]       ] [
fhir:code [
          ( fhir:coding [
a loinc:69547-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69547-8" ] ;
fhir:display [ fhir:v "Genomic Ref allele [ID]" ]           ] )         ] ;
fhir:value [ fhir:v "ATTGAGGGAAAACACAT" ]       ] [
fhir:code [
          ( fhir:coding [
a loinc:69551-0 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "69551-0" ] ;
fhir:display [ fhir:v "Genomic Alt allele [ID]" ]           ] )         ] ;
fhir:value [ fhir:v "T" ]       ] [
fhir:code [
          ( fhir:coding [
a loinc:92822-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "92822-6" ] ;
fhir:display [ fhir:v "Genomic coord system" ]           ] )         ] ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
a loinc:LA30100-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA30100-4" ] ;
fhir:display [ fhir:v "0-based interval counting" ]           ] )         ]       ] [
fhir:code [
          ( fhir:coding [
a loinc:81254-5 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81254-5" ]           ] ) ;
fhir:text [ fhir:v "Genomic allele start-end" ]         ] ;
fhir:value [
a fhir:Range ;
fhir:low [
fhir:value [ fhir:v "39723965"^^xsd:decimal ]           ]         ]       ] )     ] )
  ] ) . #