Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: PGxGenomicsReportEMERGE-withGrouping - TTL Representation

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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 -------------------------------------------------------------------

 a fhir:DiagnosticReport;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "PGxGenomicsReportEMERGE-withGrouping"];
  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: {https://hgsc.bcm.edu/lab-test-codes/ emerge-seq-ngs-pnl}\">emerge-seq-ngs-pnl</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> male, DoB: 1951-01-20 ( Medical Record Number: m123 (USUAL))</td></tr><tr><td>When For</td><td>2020-01-01 12:00:00-0500</td></tr><tr><td>Reported</td><td>2020-01-01 12:00:00-0500</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td></tr><tr><td><a href=\"Observation-OverallInterpExample2.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></tr><tr><td><a href=\"Observation-GrouperEx01.html\"><span title=\"Codes: {http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl C43359}\">Group</span></a></td><td></td></tr><tr><td><a href=\"Observation-GrouperEx02.html\"><span title=\"Codes: {http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl C43359}\">Group</span></a></td><td></td></tr><tr><td><a href=\"Observation-GrouperEx03.html\"><span title=\"Codes: {http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl C43359}\">Group</span></a></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/recommended-action" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "Task/PGxRecEx01" ];
       fhir:Reference.display [ fhir:value "No clopidogrel" ]     ]
  ], [
     fhir:index 1;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "Task/PGxRecEx02" ];
       fhir:Reference.display [ fhir:value "No voriconazole" ]     ]
  ], [
     fhir:index 2;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "Task/PGxRecEx03" ];
       fhir:Reference.display [ fhir:value "50% citalopram" ]     ]
  ], [
     fhir:index 3;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "Task/PGxRecEx04" ];
       fhir:Reference.display [ fhir:value "50% escitalopram" ]     ]
  ], [
     fhir:index 4;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "Task/PGxRecEx04" ];
       fhir:Reference.display [ fhir:value "50% amitriptyline" ]     ]
  ], [
     fhir:index 5;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "DocumentReference/VCFFile" ]     ]
  ];
  fhir:DiagnosticReport.basedOn [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "ServiceRequest/eMERGEServiceRequest" ]
  ];
  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;
       fhir:Coding.system [ fhir:value "https://hgsc.bcm.edu/lab-test-codes/" ];
       fhir:Coding.code [ fhir:value "emerge-seq-ngs-pnl" ]     ]
  ];
  fhir:DiagnosticReport.subject [
     fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
  ];
  fhir:DiagnosticReport.effectiveDateTime [ fhir:value "2020-01-01T00:00:00-05:00"^^xsd:dateTime];
  fhir:DiagnosticReport.issued [ fhir:value "2020-01-01T00:00:00-05:00"^^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/OverallInterpExample2" ];
     fhir:Reference.display [ fhir:value "gene-drug interactions found." ]
  ], [
     fhir:index 1;
     fhir:Reference.reference [ fhir:value "Observation/GrouperEx01" ];
     fhir:Reference.display [ fhir:value "Therapeutic Implications" ]
  ], [
     fhir:index 2;
     fhir:Reference.reference [ fhir:value "Observation/GrouperEx02" ];
     fhir:Reference.display [ fhir:value "Genotypes" ]
  ], [
     fhir:index 3;
     fhir:Reference.reference [ fhir:value "Observation/GrouperEx03" ];
     fhir:Reference.display [ fhir:value "Regions studied and Variants" ]
  ].

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

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