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

: GenomicReportExample01 - 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/DiagnosticReport/GenomicReportExample01> a fhir:DiagnosticReport ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:Resource.id [ fhir:value "GenomicReportExample01"] ;
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report" ;
       fhir:index 0 ;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report>
     ]
  ] ;
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ] ;
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: DiagnosticReport GenomicReportExample01</b></p><a name=\"GenomicReportExample01\"> </a><a name=\"hcGenomicReportExample01\"> </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-report.html\">Genomic Report</a></p></div><h2><span title=\"Codes:{http://loinc.org 51969-4}, {http://loinc.org 57979-7}\">HLA-B*15:02 [Presence]</span> (<span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td>Adam B. Everyman  Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</td></tr><tr><td>Relevant Time</td><td>2016</td></tr><tr><td>Reported</td><td>2018-03-06 00:00:00-0500</td></tr><tr><td>Performer</td><td> <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href=\"Observation-TherapeuticImplicationExample1.html\"><span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>Final</td><td>2019-04-01</td></tr><tr><td><a href=\"Observation-GenotypeExample1.html\"><span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 14909}\">HLA-B*15:02</span></td><td>Final</td><td>2019-04-01</td></tr></table><p>Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.</p><p><b>Coded Conclusions:</b></p><ul><li><span title=\"Codes:{http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
  ] ;
  fhir:DomainResource.extension [
     fhir:index 0 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action" ] ;
     fhir:Extension.valueReference [
       fhir:link <http://hl7.org/fhir/Task/MedicationRecommendationExample1> ;
       fhir:Reference.reference [ fhir:value "Task/MedicationRecommendationExample1" ]
     ]
  ], [
     fhir:index 1 ;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact" ] ;
     fhir:Extension.valueRelatedArtifact [
       fhir:RelatedArtifact.type [ fhir:value "citation" ] ;
       fhir:RelatedArtifact.url [ fhir:value "https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19" ]
     ]
  ] ;
  fhir:DiagnosticReport.basedOn [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/ServiceRequest/GenomicServiceRequestExample01> ;
     fhir:Reference.reference [ fhir:value "ServiceRequest/GenomicServiceRequestExample01" ]
  ] ;
  fhir:DiagnosticReport.status [ fhir:value "final"] ;
  fhir:DiagnosticReport.category [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       fhir:Coding.system [ fhir:value "http://terminology.hl7.org/CodeSystem/v2-0074" ] ;
       fhir:Coding.code [ fhir:value "GE" ]
     ]
  ] ;
  fhir:DiagnosticReport.code [
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:51969-4 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "51969-4" ]
     ], [
       fhir:index 1 ;
       a loinc:57979-7 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "57979-7" ] ;
       fhir:Coding.display [ fhir:value "HLA-B*15:02 [Presence]" ]
     ]
  ] ;
  fhir:DiagnosticReport.subject [
     fhir:link <http://hl7.org/fhir/Patient/CGPatientExample01> ;
     fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
  ] ;
  fhir:DiagnosticReport.effectiveDateTime [ fhir:value "2016"^^xsd:gYear] ;
  fhir:DiagnosticReport.issued [ fhir:value "2018-03-06T00:00:00-05:00"^^xsd:dateTime] ;
  fhir:DiagnosticReport.performer [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Organization/ExampleOrg> ;
     fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
  ] ;
  fhir:DiagnosticReport.result [
     fhir:index 0 ;
     fhir:link <http://hl7.org/fhir/Observation/TherapeuticImplicationExample1> ;
     fhir:Reference.reference [ fhir:value "Observation/TherapeuticImplicationExample1" ] ;
     fhir:Reference.display [ fhir:value "impact for high risk allele" ]
  ], [
     fhir:index 1 ;
     fhir:link <http://hl7.org/fhir/Observation/GenotypeExample1> ;
     fhir:Reference.reference [ fhir:value "Observation/GenotypeExample1" ]
  ] ;
  fhir:DiagnosticReport.conclusion [ fhir:value "Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ."] ;
  fhir:DiagnosticReport.conclusionCode [
     fhir:index 0 ;
     fhir:CodeableConcept.coding [
       fhir:index 0 ;
       a loinc:LA6576-8 ;
       fhir:Coding.system [ fhir:value "http://loinc.org" ] ;
       fhir:Coding.code [ fhir:value "LA6576-8" ] ;
       fhir:Coding.display [ fhir:value "Positive" ]
     ]
  ] .

<http://hl7.org/fhir/Task/MedicationRecommendationExample1> a fhir:Task .

<http://hl7.org/fhir/ServiceRequest/GenomicServiceRequestExample01> a fhir:ServiceRequest .

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

<http://hl7.org/fhir/Organization/ExampleOrg> a fhir:Organization .

<http://hl7.org/fhir/Observation/TherapeuticImplicationExample1> a fhir:Observation .

<http://hl7.org/fhir/Observation/GenotypeExample1> a fhir:Observation .

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

<http://hl7.org/fhir/DiagnosticReport/GenomicReportExample01.ttl> a owl:Ontology ;
  owl:imports fhir:fhir.ttl ;
  owl:versionIRI <http://build.fhir.org/DiagnosticReport/GenomicReportExample01.ttl> .