This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions
: PolyGenicDiagnosticImpExample - TTL Representation
Raw ttl | Download
@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://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:id [ fhir:v "PolyGenicDiagnosticImpExample"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/diagnostic-implication> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Observation</b><a name=\"PolyGenicDiagnosticImpExample\"> </a></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 Observation "PolyGenicDiagnosticImpExample" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-diagnostic-implication.html\">Diagnostic Implication</a></p></div><p><b>Genomic 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/5.3.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span>, Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/5.3.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</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>effective</b>: 2019-04-01</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></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:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-risk-assessment"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "RiskAssessment/GenRiskDiabetesT2" ] ;
fhir:display [ fhir:v "Polygenic Risk Score" ] ]
] ) ; #
fhir:status [ fhir:v "final"] ; #
fhir:category ( [
( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ] ] )
] [
( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ] ;
fhir:code [ fhir:v "GE" ] ] )
] ) ; #
fhir:code [
( fhir:coding [
fhir:system [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ] ;
fhir:code [ fhir:v "diagnostic-implication" ] ] )
] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/CGPatientExample01" ]
] ; #
fhir:effective [ fhir:v "2019-04-01"^^xsd:date] ; #
fhir:performer ( [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]
] ) ; #
fhir:derivedFrom ( [
fhir:identifier [
fhir:system [ fhir:v "http://hospital.example.org"^^xsd:anyURI ] ;
fhir:value [ fhir:v "11" ] ] ;
fhir:display [ fhir:v "Variant 1" ]
] [
fhir:identifier [
fhir:system [ fhir:v "http://hospital.example.org"^^xsd:anyURI ] ;
fhir:value [ fhir:v "12" ] ] ;
fhir:display [ fhir:v "Variant 2" ]
] ) ; #
fhir:component ( [
fhir:code [
( fhir:coding [
a loinc:53037-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "53037-8" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
a loinc:LA6668-3 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6668-3" ] ;
fhir:display [ fhir:v "Pathogenic" ] ] ) ]
] [
fhir:code [
( fhir:coding [
a loinc:81259-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "81259-4" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
a sct:44054006 ;
fhir:system [ fhir:v "http://snomed.info/sct"^^xsd:anyURI ] ;
fhir:code [ fhir:v "44054006" ] ;
fhir:display [ fhir:v "Diabetes mellitus type 2 (disorder)" ] ] ) ]
] ) . #
|
Propose a change