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. For a full list of available versions, see the Directory of published versions

: TxImp06 - 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 "TxImp06"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "generated" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\">Normal metabolizer of Warfarin</div>"
  ];
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-artifact" ];
     fhir:Extension.valueRelatedArtifact [
       fhir:RelatedArtifact.type [ fhir:value "citation" ];
       fhir:RelatedArtifact.url [ fhir:value "https://cpicpgx.org/guidelines/guideline-for-warfarin-and-cyp2c9-and-vkorc1/" ]     ]
  ];
  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;
       fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ];
       fhir:Coding.code [ fhir:value "therapeutic-implication" ]     ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-geno-1002" ];
     fhir:Reference.display [ fhir:value "CYP2C9*1/*1" ]
  ], [
     fhir:index 1;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-geno-1003" ];
     fhir:Reference.display [ fhir:value "VKORC1 rs9923231 C/T" ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:51963-7;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "51963-7" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://ncimeta.nci.nih.gov" ];
         fhir:Coding.code [ fhir:value "C0043031" ];
         fhir:Coding.display [ fhir:value "warfarin" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ];
         fhir:Coding.code [ fhir:value "predicted-therapeutic-implication" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA25391-6;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA25391-6" ];
         fhir:Coding.display [ fhir:value "Normal metabolizer" ]       ]     ]
  ], [
     fhir:index 2;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs" ];
         fhir:Coding.code [ fhir:value "conclusion-string" ]       ]     ];
     fhir:Observation.component.valueString [ fhir:value "This individual is homozygous for the normal allele for the CYP2C9 gene. Based on the genotype result, this patient is predicted to have normal CYP2C9 function. This individual is also heterozygous for the variant allele for the VKORC1 gene. Expression level of the VKORC1 gene is associated with warfarin sensitivity. Based on the genotype result, this patient is predicted to have medium sensitivity to warfarin. See https://cpicpgx.org/guidelines/guideline-for-warfarin-and-cyp2c9-and-vkorc1/ guidelines for detail." ]
  ].

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

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