Genomics Reporting Implementation Guide
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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

: FindStudyMetadataOutput - TTL Representation

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@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <http://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 -------------------------------------------------------------------

<http://hl7.org/fhir/Parameters/FindStudyMetadataOutput> a fhir:Parameters ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "FindStudyMetadataOutput"] ;
  fhir:Parameters.parameter [
     fhir:index 0 ;
     fhir:Parameters.parameter.name [ fhir:value "tests" ] ;
     fhir:Parameters.parameter.part [
       fhir:index 0 ;
       fhir:Parameters.parameter.name [ fhir:value "testId" ] ;
       fhir:Parameters.parameter.valueString [ fhir:value "test08736abc87" ]
     ], [
       fhir:index 1 ;
       fhir:Parameters.parameter.name [ fhir:value "testDate" ] ;
       fhir:Parameters.parameter.valueDateTime [ fhir:value "2020-07-13"^^xsd:date ]
     ], [
       fhir:index 2 ;
       fhir:Parameters.parameter.name [ fhir:value "specimenId" ] ;
       fhir:Parameters.parameter.valueString [ fhir:value "specimen9652adbg69" ]
     ], [
       fhir:index 3 ;
       fhir:Parameters.parameter.name [ fhir:value "genomicBuild" ] ;
       fhir:Parameters.parameter.valueCodeableConcept [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           a loinc:LA26806-2 ;
           fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
           fhir:Coding.code [ fhir:value "LA26806-2" ] ;
           fhir:Coding.display [ fhir:value "GRCh38" ]
         ]
       ]
     ], [
       fhir:index 4 ;
       fhir:Parameters.parameter.name [ fhir:value "dnaChangeType" ] ;
       fhir:Parameters.parameter.valueCodeableConcept [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
           fhir:Coding.code [ fhir:value "SO:0001483" ] ;
           fhir:Coding.display [ fhir:value "SNV" ]
         ], [
           fhir:index 1 ;
           fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
           fhir:Coding.code [ fhir:value "SO:0002007" ] ;
           fhir:Coding.display [ fhir:value "MNV" ]
         ], [
           fhir:index 2 ;
           fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
           fhir:Coding.code [ fhir:value "SO:1000032" ] ;
           fhir:Coding.display [ fhir:value "delins" ]
         ], [
           fhir:index 3 ;
           fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
           fhir:Coding.code [ fhir:value "SO:0001019" ] ;
           fhir:Coding.display [ fhir:value "copy_number_variation" ]
         ]
       ]
     ], [
       fhir:index 5 ;
       fhir:Parameters.parameter.name [ fhir:value "regionStudied" ] ;
       fhir:Parameters.parameter.valueString [ fhir:value "['NC_000007.14:55019016-55019365', 'NC_000007.14:55142285-55142437', 'NC_000007.14:55143304-55143488', 'NC_000007.14:55146605-55146740', 'NC_000007.14:55151293-55151362', 'NC_000007.14:55152545-55152664', 'NC_000007.14:55154010-55154152', 'NC_000007.14:55155829-55155946', 'NC_000007.14:55156532-55156659', 'NC_000007.14:55156758-55156832', 'NC_000007.14:55157662-55157753', 'NC_000007.14:55160138-55160338', 'NC_000007.14:55161498-55161631', 'NC_000007.14:55163732-55163823', 'NC_000007.14:55165279-55165437', 'NC_000007.14:55171174-55171213', 'NC_000007.14:55172982-55173124', 'NC_000007.14:55173920-55174043', 'NC_000007.14:55174721-55174820', 'NC_000007.14:55181292-55181478', 'NC_000007.14:55191718-55191874', 'NC_000007.14:55192765-55192841', 'NC_000007.14:55198716-55198863', 'NC_000007.14:55200315-55200413', 'NC_000007.14:55201187-55201355', 'NC_000007.14:55201734-55201782', 'NC_000007.14:55202516-55202625', 'NC_000007.14:55205255-55211628']" ]
     ], [
       fhir:index 6 ;
       fhir:Parameters.parameter.name [ fhir:value "uncallableRegions" ] ;
       fhir:Parameters.parameter.valueString [ fhir:value "['NC_000007.14:55173910-55174053', 'NC_000007.14:55174711-55174830', 'NC_000007.14:55181282-55181488']" ]
     ]
  ] .

# - ontology header ------------------------------------------------------------

<http://hl7.org/fhir/Parameters/FindStudyMetadataOutput.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/Parameters/FindStudyMetadataOutput.ttl> .