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

: PolyGenicDiagnosticImpExample - 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 sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

 a fhir:Observation;
  fhir:nodeRole fhir:treeRoot;
  fhir:Resource.id [ fhir:value "PolyGenicDiagnosticImpExample"];
  fhir:Resource.meta [
     fhir:Meta.profile [
       fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication";
       fhir:index 0;
       fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication>     ]
  ];
  fhir:DomainResource.text [
     fhir:Narrative.status [ fhir:value "extensions" ];
     fhir:Narrative.div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"PolyGenicDiagnosticImpExample\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>Genomics Risk Assessment</b>: <a href=\"RiskAssessment-GenRiskDiabetesT2.html\">RiskAssessment/GenRiskDiabetesT2: Polygenic Risk Score</a></p><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Diagnostic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#diagnostic-implication)</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Patient/CGPatientExample01</a> \" EVERYMAN\"</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization/ExampleOrg</a> \"some lab\"</p><p><b>derivedFrom</b>: </p><ul><li><span>: Variant 1</span></li><li><span>: Variant 2</span></li><li><span>: Variant 3</span></li><li><span>: Variant 4</span></li><li><span>: Variant 5</span></li><li><span>: Variant 6</span></li><li><span>: Variant 7</span></li></ul><blockquote><p><b>component</b></p><p><b>code</b>: Genetic variation clinical significance [Imp] <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#53037-8)</span></p><p><b>value</b>: Pathogenic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6668-3)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Associated phenotype <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81259-4)</span></p><p><b>value</b>: Diabetes mellitus type 2 (disorder) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://browser.ihtsdotools.org/\">SNOMED CT</a>#44054006)</span></p></blockquote></div>"
  ];
  fhir:DomainResource.extension [
     fhir:index 0;
     fhir:Extension.url [ fhir:value "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-risk-assessment" ];
     fhir:Extension.valueReference [
       fhir:Reference.reference [ fhir:value "RiskAssessment/GenRiskDiabetesT2" ];
       fhir:Reference.display [ fhir:value "Polygenic Risk Score" ]     ]
  ];
  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 "diagnostic-implication" ]     ]
  ];
  fhir:Observation.subject [
     fhir:Reference.reference [ fhir:value "Patient/CGPatientExample01" ]
  ];
  fhir:Observation.performer [
     fhir:index 0;
     fhir:Reference.reference [ fhir:value "Organization/ExampleOrg" ]
  ];
  fhir:Observation.derivedFrom [
     fhir:index 0;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "11" ]     ];
     fhir:Reference.display [ fhir:value "Variant 1" ]
  ], [
     fhir:index 1;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "12" ]     ];
     fhir:Reference.display [ fhir:value "Variant 2" ]
  ], [
     fhir:index 2;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "13" ]     ];
     fhir:Reference.display [ fhir:value "Variant 3" ]
  ], [
     fhir:index 3;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "14" ]     ];
     fhir:Reference.display [ fhir:value "Variant 4" ]
  ], [
     fhir:index 4;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "15" ]     ];
     fhir:Reference.display [ fhir:value "Variant 5" ]
  ], [
     fhir:index 5;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "16" ]     ];
     fhir:Reference.display [ fhir:value "Variant 6" ]
  ], [
     fhir:index 6;
     fhir:Reference.identifier [
       fhir:Identifier.system [ fhir:value "http://hospital.example.org" ];
       fhir:Identifier.value [ fhir:value "17" ]     ];
     fhir:Reference.display [ fhir:value "Variant 7" ]
  ];
  fhir:Observation.component [
     fhir:index 0;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:53037-8;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "53037-8" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:LA6668-3;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "LA6668-3" ];
         fhir:Coding.display [ fhir:value "Pathogenic" ]       ]     ]
  ], [
     fhir:index 1;
     fhir:Observation.component.code [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a loinc:81259-4;
         fhir:Coding.system [ fhir:value "http://loinc.org" ];
         fhir:Coding.code [ fhir:value "81259-4" ]       ]     ];
     fhir:Observation.component.valueCodeableConcept [
       fhir:CodeableConcept.coding [
         fhir:index 0;
         a sct:44054006;
         fhir:Coding.system [ fhir:value "http://snomed.info/sct" ];
         fhir:Coding.code [ fhir:value "44054006" ];
         fhir:Coding.display [ fhir:value "Diabetes mellitus type 2 (disorder)" ]       ]     ]
  ].

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

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