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-GrouperEx03 - 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:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "GrouperEx03"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/grouper>     ]
  ];
  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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes grouper}\">grouper</span></p><p><b>hasMember</b>: </p><ul><li><a href=\"Observation-Pgx-var-1011.html\">NC_000010.10(CYP2C19):g.96521657C=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1012.html\">NC_000010.10(CYP2C19):g.96522463A=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1013.html\">NC_000010.10(CYP2C19):g.96535173T=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1014.html\">NC_000010.10(CYP2C19):g.96535210G=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1015.html\">NC_000010.10(CYP2C19):g.96540410G&gt;A. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1016.html\">NC_000010.10(CYP2C19):g.96541616G=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1017.html\">NC_000010.10(CYP2C19):g.96541756T=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1018.html\">NC_000010.10(CYP2C19):g.96612495C=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1019.html\">NC_000016.9(VKORC1):g.31096368C&gt;T. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1020.html\">NC_000010.10(CYP2C9):g.96702047C=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-Pgx-var-1021.html\">NC_000010.10(CYP2C9):g.96741053A=. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span>; effective: 2020-01-01; <span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span>; <span title=\"Codes: {http://loinc.org LA26398-0}\">Sequencing</span></a></li><li><a href=\"Observation-RegionStudiedPGx1.html\">CYP2C19. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 53041-0}\">DNA region of interest panel</span></a></li><li><a href=\"Observation-RegionStudiedPGx2.html\">CYP2C9. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 53041-0}\">DNA region of interest panel</span></a></li><li><a href=\"Observation-RegionStudiedPGx3.html\">VKORC1. Generated Summary: <span title=\"Codes: {http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>; <span title=\"Codes: {http://loinc.org 53041-0}\">DNA region of interest panel</span></a></li></ul></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;
       fhir:Coding.system [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/TbdCodes" ];
       fhir:Coding.code [ fhir:value "grouper" ]     ]
  ];
  fhir:Observation.hasMember [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1011" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96521657C=" ]
  ], [
     fhir:index 1;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1012" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96522463A=" ]
  ], [
     fhir:index 2;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1013" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96535173T=" ]
  ], [
     fhir:index 3;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1014" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96535210G=" ]
  ], [
     fhir:index 4;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1015" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96540410G>A" ]
  ], [
     fhir:index 5;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1016" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96541616G=" ]
  ], [
     fhir:index 6;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1017" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96541756T=" ]
  ], [
     fhir:index 7;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1018" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C19):g.96612495C=" ]
  ], [
     fhir:index 8;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1019" ];
     fhir:Reference.display [ fhir:value "NC_000016.9(VKORC1):g.31096368C>T" ]
  ], [
     fhir:index 9;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1020" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C9):g.96702047C=" ]
  ], [
     fhir:index 10;
     fhir:Reference.reference [ fhir:value "Observation/Pgx-var-1021" ];
     fhir:Reference.display [ fhir:value "NC_000010.10(CYP2C9):g.96741053A=" ]
  ], [
     fhir:index 11;
     fhir:Reference.reference [ fhir:value "Observation/RegionStudiedPGx1" ];
     fhir:Reference.display [ fhir:value "CYP2C19" ]
  ], [
     fhir:index 12;
     fhir:Reference.reference [ fhir:value "Observation/RegionStudiedPGx2" ];
     fhir:Reference.display [ fhir:value "CYP2C9" ]
  ], [
     fhir:index 13;
     fhir:Reference.reference [ fhir:value "Observation/RegionStudiedPGx3" ];
     fhir:Reference.display [ fhir:value "VKORC1" ]
  ].

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

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