@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 -------------------------------------------------------------------

<http://hl7.org/fhir/uv/genomics-reporting/Parameters/FindSubjectDxImplicationsOutput> 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:l <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication>
         ] )
       ] ;
       fhir:text [
         fhir:status [ fhir:v "generated" ] ;
         fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\">Pathogenic - Malignant hyperthermia</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 ( [
           fhir:system [
             fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
             fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs>
           ] ;
           fhir:code [ fhir:v "diagnostic-implication" ]
         ] )
       ] ;
       fhir:subject [
         fhir:l <http://hl7.org/fhir/uv/genomics-reporting/Patient/HG00403> ;
         fhir:reference [ fhir:v "Patient/HG00403" ]
       ] ;
       fhir:effective [
         a fhir:DateTime ;
         fhir:v "2023-04-01"^^xsd:date
       ] ;
       fhir:performer ( [
         fhir:l <http://hl7.org/fhir/uv/genomics-reporting/Organization/ExampleOrg> ;
         fhir:reference [ fhir:v "Organization/ExampleOrg" ]
       ] ) ;
       fhir:derivedFrom ( [
         fhir:l <http://hl7.org/fhir/uv/genomics-reporting/Observation/VariantExample2> ;
         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:l <http://loinc.org>
             ] ;
             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:l <http://loinc.org>
             ] ;
             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:l <http://loinc.org>
             ] ;
             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:l <http://snomed.info/sct>
             ] ;
             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: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\">NC_000019.10:g.38499669C&gt;T</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 <http://hl7.org/fhir/uv/genomics-reporting/Patient/HG00403> ;
         fhir:reference [ fhir:v "Patient/HG00403" ]
       ] ;
       fhir:effective [
         a fhir:DateTime ;
         fhir:v "2023-04-01"^^xsd:date
       ] ;
       fhir:performer ( [
         fhir:l <http://hl7.org/fhir/uv/genomics-reporting/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: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 [Type]" ]
           ] )
         ] ;
         fhir:value [
           a fhir:CodeableConcept ;
           fhir:coding ( [
             a loinc:LA6683-2 ;
             fhir:system [
               fhir:v "http://loinc.org"^^xsd:anyURI ;
               fhir:l <http://loinc.org>
             ] ;
             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: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_000019.10" ]
           ] )
         ]
       ] [
         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 "C"
         ]
       ] [
         fhir:code [
           fhir:coding ( [
             a loinc:69551-0 ;
             fhir:system [
               fhir:v "http://loinc.org"^^xsd:anyURI ;
               fhir:l <http://loinc.org>
             ] ;
             fhir:code [ fhir:v "69551-0" ] ;
             fhir:display [ fhir:v "Genomic Alt allele [ID]" ]
           ] )
         ] ;
         fhir:value [
           a fhir:String ;
           fhir:v "T"
         ]
       ] [
         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:81254-5 ;
             fhir:system [
               fhir:v "http://loinc.org"^^xsd:anyURI ;
               fhir:l <http://loinc.org>
             ] ;
             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 ]
           ]
         ]
       ] )
     ] )
  ] ) . # 

<http://hl7.org/fhir/uv/genomics-reporting/Patient/HG00403> a fhir:Uv .

<http://hl7.org/fhir/uv/genomics-reporting/Organization/ExampleOrg> a fhir:Uv .

<http://hl7.org/fhir/uv/genomics-reporting/Observation/VariantExample2> a fhir:Uv .

# -------------------------------------------------------------------------------------

