Genomics Reporting Implementation Guide
1.1.0 - Ballot

This page is part of the Genetic Reporting Implementation Guide (v1.1.0: STU 2 Ballot 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: Example - GenomicsReport - 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 -------------------------------------------------------------------

 a fhir:DiagnosticReport;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "GenomicsReportExample01"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2><span title=\"Codes: {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><b>Adam B. Everyman </b>  1951-01-20 ( Medical Record Number: m123 (USUAL))</td></tr><tr><td>When For</td><td>2016</td></tr><tr><td>Reported</td><td>Mar 6, 2018 5:00:00 AM</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>When For</b></td></tr><tr><td><a href=\"Observation-TherapeuticImplicationExample1.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></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>2018</td></tr><tr><td><a href=\"Observation-OverallInterpExample1.html\"><span title=\"Codes: {http://loinc.org 51968-6}\">Discrete variation analysis overall interpretation</span></a></td><td><span title=\"Codes: {http://loinc.org LA6576-8}\">Positive</span></td><td></td></tr></table></div>"
  ];
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/RecommendedAction" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "Task/TaskMedChgExample1" ]     ]
  ];
  fhir:DiagnosticReport.basedOn [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "ServiceRequest/GenomicsServiceRequestExample01" ]
  ];
  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: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: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:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
  ];
  fhir:DiagnosticReport.result [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "Observation/TherapeuticImplicationExample1" ];
     fhir:Reference.display [ fhir:value "impact for high risk allele" ]
  ], [
     fhir:index 1;
     fhir:Reference.reference [ fhir:value "Observation/GenotypeExample1" ]
  ], [
     fhir:index 2;
     fhir:Reference.reference [ fhir:value "Observation/OverallInterpExample1" ]
  ].

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

 a owl:Ontology;
  owl:imports fhir:fhir.ttl.