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

: PGXGenomicStudyAnalysis - TTL Representation

Page standards status: Informative

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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/Procedure/PGXGenomicStudyAnalysis> a fhir:Procedure ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "PGXGenomicStudyAnalysis"] ;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis" ;
       fhir:index 0 ;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis>
     ]
  ] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "extensions" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Procedure PGXGenomicStudyAnalysis</b></p><a name=\"PGXGenomicStudyAnalysis\"> </a><a name=\"hcPGXGenomicStudyAnalysis\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Genome Build</b>: <span title=\"Codes:{http://loinc.org LA26806-2}\">GRCh38</span></p><blockquote><p><b>Genomic Study Analysis Metrics</b></p><ul><li>sequencing-coverage: 100</li></ul></blockquote><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: protein-coding and exon-splicing regions</li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:2621}\">CYP2C19</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:2623}\">CYP2C9</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:23663}\">VKORC1</span></li></ul></blockquote><p><b>status</b>: Completed</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Adam B. Everyman  Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</a></p><p><b>performed</b>: 2021-01-01 01:01:10-0600</p></div>"
  ] ;
  fhir:DomainResource.extension [
     fhir:index 0 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build" ] ;
     fhir:Extension.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 1 ;
     fhir:Element.extension [
       fhir:index 0 ;
       fhir:Extension.url [ fhir:value "sequencing-coverage" ] ;
       fhir:Extension.valueQuantity [
         fhir:Quantity.value [ fhir:value "100"^^xsd:decimal ]
       ]
     ] ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics" ]
  ], [
     fhir:index 2 ;
     fhir:Element.extension [
       fhir:index 0 ;
       fhir:Extension.url [ fhir:value "description" ] ;
       fhir:Extension.valueString [ fhir:value "protein-coding and exon-splicing regions" ]
     ], [
       fhir:index 1 ;
       fhir:Extension.url [ fhir:value "studied" ] ;
       fhir:Extension.valueCodeableConcept [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
           fhir:Coding.code [ fhir:value "HGNC:2621" ] ;
           fhir:Coding.display [ fhir:value "CYP2C19" ]
         ]
       ]
     ], [
       fhir:index 2 ;
       fhir:Extension.url [ fhir:value "studied" ] ;
       fhir:Extension.valueCodeableConcept [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
           fhir:Coding.code [ fhir:value "HGNC:2623" ] ;
           fhir:Coding.display [ fhir:value "CYP2C9" ]
         ]
       ]
     ], [
       fhir:index 3 ;
       fhir:Extension.url [ fhir:value "studied" ] ;
       fhir:Extension.valueCodeableConcept [
         fhir:CodeableConcept.coding [
           fhir:index 0 ;
           fhir:Coding.system [ fhir:value "http://www.genenames.org" ] ;
           fhir:Coding.code [ fhir:value "HGNC:23663" ] ;
           fhir:Coding.display [ fhir:value "VKORC1" ]
         ]
       ]
     ] ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions" ]
  ] ;
  fhir:Procedure.status [ fhir:value "completed"] ;
  fhir:Procedure.category [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/observation-category" ] ;
       fhir:Coding.code [ fhir:value "laboratory" ]
     ]
  ] ;
  fhir:Procedure.subject [
     fhir:link <http://hl7.org/fhir/Patient/CGPatientExample01> ;
     fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
  ] ;
  fhir:Procedure.performedDateTime [ fhir:value "2021-01-01T01:01:10-06:00"^^xsd:dateTime] .

<http://hl7.org/fhir/Patient/CGPatientExample01> a fhir:Patient .

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

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