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

: analysisTumorRNA - TTL Representation

Page standards status: Informative

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@prefix fhir: <http://hl7.org/fhir/> .
@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/analysisTumorRNA> a fhir:Procedure ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "analysisTumorRNA"] ;
  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 analysisTumorRNA</b></p><a name=\"analysisTumorRNA\"> </a><a name=\"hcanalysisTumorRNA\"> </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><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>studied: <a href=\"DocumentReference-FullGenome-GRCh38.html\">DocumentReference: identifier = http://example.org/identifiers/files#1076146520; status = current; docStatus = preliminary; description = Studied region for RNA sequencing.; securityLabel = Restricted</a></li></ul></blockquote><p><b>Genomic Study Analysis Method Type</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs rna-analysis}\">RNA analysis</span></p><p><b>Genomic Study Analysis Change Type</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001565}\">gene_fusion</span></p><p><b>Genomic Study Analysis Change Type</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001576}\">transcript_variant</span></p><p><b>Genomic Study Analysis Specimen</b>: <a href=\"Specimen-tumorSpecimen.html\">Specimen: identifier = http://example.org/identifiers/specimens#222333; status = available; type = Specimen from lung obtained by biopsy (specimen); receivedTime = 2023-01-23 01:01:01+0000; note = Tumor: 20%</a></p><p><b>Genomic Study Analysis Focus</b>: <a href=\"Patient-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --&gt; (ongoing)))</a></p><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-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567 (use: temp, period: 2021-01-01 --&gt; (ongoing)))</a></p><p><b>performed</b>: 2023-02-02 01:01:10-0600</p></div>"
  ] ;
  fhir:DomainResource.extension [
     fhir:index 0 ;
     fhir:Element.extension [
       fhir:index 0 ;
       fhir:Extension.url [ fhir:value "studied" ] ;
       fhir:Extension.valueReference [
         fhir:link <http://hl7.org/fhir/DocumentReference/FullGenome-GRCh38> ;
         fhir:Reference.reference [ fhir:value "DocumentReference/FullGenome-GRCh38" ]
       ]
     ] ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions" ]
  ], [
     fhir:index 1 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type" ] ;
     fhir:Extension.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs" ] ;
         fhir:Coding.code [ fhir:value "rna-analysis" ] ;
         fhir:Coding.display [ fhir:value "RNA analysis" ]
       ]
     ]
  ], [
     fhir:index 2 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type" ] ;
     fhir:Extension.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
         fhir:Coding.code [ fhir:value "SO:0001565" ] ;
         fhir:Coding.display [ fhir:value "gene_fusion" ]
       ]
     ]
  ], [
     fhir:index 3 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-change-type" ] ;
     fhir:Extension.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0 ;
         fhir:Coding.system [ fhir:value "http://www.sequenceontology.org" ] ;
         fhir:Coding.code [ fhir:value "SO:0001576" ] ;
         fhir:Coding.display [ fhir:value "transcript_variant" ]
       ]
     ]
  ], [
     fhir:index 4 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen" ] ;
     fhir:Extension.valueReference [
       fhir:link <http://hl7.org/fhir/Specimen/tumorSpecimen> ;
       fhir:Reference.reference [ fhir:value "Specimen/tumorSpecimen" ]
     ]
  ], [
     fhir:index 5 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus" ] ;
     fhir:Extension.valueReference [
       fhir:link <http://hl7.org/fhir/Patient/somaticPatient> ;
       fhir:Reference.reference [ fhir:value "Patient/somaticPatient" ]
     ]
  ] ;
  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/somaticPatient> ;
     fhir:Reference.reference [ fhir:value "Patient/somaticPatient" ]
  ] ;
  fhir:Procedure.performedDateTime [ fhir:value "2023-02-02T01:01:10-06:00"^^xsd:dateTime] .

<http://hl7.org/fhir/DocumentReference/FullGenome-GRCh38> a fhir:DocumentReference .

<http://hl7.org/fhir/Specimen/tumorSpecimen> a fhir:Specimen .

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

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

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