Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## : FindSubjectStructuralIntersectingVariantsOutput - 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 xsd: <http://www.w3.org/2001/XMLSchema#> .

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

     a fhir:Parameters ;
      fhir:nodeRole fhir:treeRoot ;
      fhir:id [ fhir:v "FindSubjectStructuralIntersectingVariantsOutput"] ; #
      fhir:parameter ( [
    fhir:name [ fhir:v "variants" ] ;
        ( fhir:part [
    fhir:name [ fhir:v "rangeItem" ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "NC_000007.13:55242414-55242513"       ]     ] [
    fhir:name [ fhir:v "presence" ] ;
    fhir:value [
    a fhir:Boolean ;
    fhir:v true       ]     ] [
    fhir:name [ fhir:v "variant" ] ;
          ( fhir:Parameters.parameter.resource [
    a fhir:Observation ;
    fhir:id [ fhir:v "dv-fff9d40035a04" ] ;
    fhir:meta [
              ( fhir:profile [
    fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"^^xsd:anyURI ;
    fhir:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant>           ] )         ] ;
    fhir:text [
    fhir:status [ fhir:v "generated" ] ;
    fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Variant</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:l <http://terminology.hl7.org/CodeSystem/observation-category>             ] ;
    fhir:code [ fhir:v "laboratory" ]           ] )         ] [
              ( fhir:coding [
    fhir:system [
    fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
    fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074>             ] ;
    fhir:code [ fhir:v "GE" ]           ] )         ] ) ;
    fhir:code [
              ( fhir:coding [
    a loinc:69548-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "69548-6" ] ;
    fhir:display [ fhir:v "Genetic variant assessment" ]           ] )         ] ;
    fhir:subject [
    fhir:l fhir:Patient/HG00403 ;
    fhir:reference [ fhir:v "Patient/HG00403" ]         ] ;
    fhir:effective [
    a fhir:DateTime ;
    fhir:v "2023-07-01"^^xsd:date         ] ;
            ( fhir:performer [
    fhir:l fhir:Organization/ExampleOrg ;
    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:l <http://loinc.org>             ] ;
    fhir:code [ fhir:v "LA9633-4" ] ;
    fhir:display [ fhir:v "present" ]           ] )         ] ;
            ( fhir:component [
    fhir:code [
                ( fhir:coding [
    a loinc:48019-4 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    fhir:code [ fhir:v "48019-4" ] ;
    fhir:display [ fhir:v "DNA Change Type" ]             ] )           ] ;
    fhir:value [
    a fhir:CodeableConcept ;
                ( fhir:coding [
    fhir:system [
    fhir:v "http://www.sequenceontology.org"^^xsd:anyURI ;
    fhir:l <http://www.sequenceontology.org>               ] ;
    fhir:code [ fhir:v "SO:0000159" ] ;
    fhir:display [ fhir:v "deletion" ]             ] )           ]         ] [
    fhir:code [
                ( fhir:coding [
    a loinc:48013-7 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    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:l <http://www.ncbi.nlm.nih.gov/refseq>               ] ;
    fhir:code [ fhir:v "NC_000007.13" ]             ] )           ]         ] [
    fhir:code [
                ( fhir:coding [
    a loinc:48002-0 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    fhir:code [ fhir:v "48002-0" ] ;
    fhir:display [ fhir:v "Genomic Source Class" ]             ] )           ] ;
    fhir:value [
    a fhir:CodeableConcept ;
                ( fhir:coding [
    a loinc:LA6684-0 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    fhir:code [ fhir:v "LA6684-0" ] ;
    fhir:display [ fhir:v "Somatic" ]             ] )           ]         ] [
    fhir:code [
                ( fhir:coding [
    a loinc:69547-8 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    fhir:code [ fhir:v "69547-8" ] ;
    fhir:display [ fhir:v "Genomic Ref allele [ID]" ]             ] )           ] ;
    fhir:value [
    a fhir:String ;
    fhir:v "G"           ]         ] [
    fhir:code [
                ( fhir:coding [
    a loinc:92822-6 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    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:l <http://loinc.org>               ] ;
    fhir:code [ fhir:v "LA30100-4" ] ;
    fhir:display [ fhir:v "0-based interval counting" ]             ] )           ]         ] [
    fhir:code [
                ( fhir:coding [
    a loinc:81302-2 ;
    fhir:system [
    fhir:v "http://loinc.org"^^xsd:anyURI ;
    fhir:l <http://loinc.org>               ] ;
    fhir:code [ fhir:v "81302-2" ]             ] ) ;
    fhir:text [ fhir:v "Variant inner start and end" ]           ] ;
    fhir:value [
    a fhir:Range ;
    fhir:low [
    fhir:value [ fhir:v "55240000"^^xsd:decimal ]             ] ;
    fhir:high [
    fhir:value [ fhir:v "55250000"^^xsd:decimal ]             ]           ]         ] )       ] )     ] )
      ] ) . #