Genomics Reporting Implementation Guide
3.0.0 - release 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 3.0.0 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

: FindSubjectDxImplicationsOutput - 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 sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

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

 a fhir:Parameters ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "FindSubjectDxImplicationsOutput"] ; # 
  fhir:parameter ( [
fhir:name [ fhir:v "implication" ] ;
    ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "DiagnosticImplicationExample" ] ;
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 "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Pathogenic - Malignant hyperthermia</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:subject [
fhir:reference [ fhir:v "Patient/HG00403" ]       ] ;
fhir:effective [ fhir:v "2023-04-01"^^xsd:date ] ;
      ( fhir:performer [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]       ] ) ;
      ( fhir:derivedFrom [
fhir:reference [ fhir:v "Observation/VariantExample2" ]       ] ) ;
      ( 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:text [ fhir:v "Genetic variation clinical significance" ]         ] ;
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:text [ fhir:v "Predicted phenotype" ]         ] ;
fhir:value [
a fhir:CodeableConcept ;
          ( fhir:coding [
a sct:405501007 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "405501007" ] ;
fhir:display [ fhir:v "Malignant hyperthermia" ]           ] )         ]       ] )     ] )
  ] [
fhir:name [ fhir:v "variant" ] ;
    ( fhir:Parameters.parameter.resource [
a fhir:Observation ;
fhir:id [ fhir:v "variantExample2" ] ;
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\">NC_000019.10:g.38499669C>T</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 "2023-04-01"^^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:LA6683-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6683-2" ] ;
fhir:display [ fhir:v "Germline" ]           ] )         ]       ] [
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_000019.10" ]           ] )         ]       ] [
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 "C" ]       ] [
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 "38499669"^^xsd:decimal ]           ]         ]       ] )     ] )
  ] ) . #