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 - Observation PGx interpretation - 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:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "OverallInterpExample2"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/overall-interpretation>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><p></p><p><b>category</b>: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes: {http://loinc.org 51968-6}\">Discrete variation analysis overall interpretation</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Generated Summary: Medical Record Number: m123 (USUAL); Adam B. Everyman ; gender: male; birthDate: 1951-01-20</a></p><p><b>value</b>: <span title=\"Codes: {http://loinc.org LA6576-8}\">Positive</span></p><p><b>specimen</b>: <a href=\"Specimen-GenomicSpecimenExample01.html\">Generated Summary: status: available; <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0487 TISS}\">Tissue</span></a></p><h3>Components</h3><table class=\"grid\"><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes conclusion-string}\">Conclusion text</span></td><td>Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram.</td></tr></table></div>"
  ];
  fhir:Observation.status [ fhir:value "final"];
  fhir:Observation.category [
     fhir:index 0;
     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:Observation.code [
     fhir:CodeableConcept.coding [
       fhir:index 0;
       a loinc:51968-6;
       fhir:Coding.system [ fhir:value "http://loinc.org" ];
       fhir:Coding.code [ fhir:value "51968-6" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
  ];
  fhir:Observation.valueCodeableConcept [
     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" ]     ]
  ];
  fhir:Observation.specimen [
     fhir:Reference.reference [ fhir:value "Specimen/GenomicSpecimenExample01" ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
         fhir:Coding.code [ fhir:value "conclusion-string" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram." ]
  ].

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

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