Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
: Pgx-geno-1001 - TTL Representation
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@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 xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Observation ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "Pgx-geno-1001"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation Pgx-geno-1001</b></p><a name=\"Pgx-geno-1001\"> </a><a name=\"hcPgx-geno-1001\"> </a><a name=\"Pgx-geno-1001-en-US\"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 84413-4}\">Genotype display name</span></p><p><b>subject</b>: <a href=\"Patient-CGPatientExample01.html\">Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href=\"Organization-ExampleOrg.html\">Organization some lab</a></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/clinvar 638797}\">CYP2C19*2/*2</span></p><p><b>specimen</b>: <a href=\"Specimen-GenomicSpecimenExample01.html\">Specimen: status = available; type = Tissue</a></p><p><b>derivedFrom</b>: </p><ul><li><a href=\"Observation-Pgx-var-1011.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1012.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1013.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1014.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1015.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1016.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1017.html\">Observation Genetic variant assessment</a></li><li><a href=\"Observation-Pgx-var-1018.html\">Observation Genetic variant assessment</a></li></ul><h3>Components</h3><table class=\"grid\"><tr><td style=\"display: none\">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style=\"display: none\">*</td><td><span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></td><td><span title=\"Codes:{http://www.genenames.org HGNC:2621}\">CYP2C19</span></td></tr></table></div>"
] ; #
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 [
a loinc:84413-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "84413-4" ] ] )
] ; #
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:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [ fhir:v "http://www.ncbi.nlm.nih.gov/clinvar"^^xsd:anyURI ] ;
fhir:code [ fhir:v "638797" ] ;
fhir:display [ fhir:v "CYP2C19*2/*2" ] ] )
] ; #
fhir:specimen [
fhir:reference [ fhir:v "Specimen/GenomicSpecimenExample01" ]
] ; #
fhir:derivedFrom ( [
fhir:reference [ fhir:v "Observation/Pgx-var-1011" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1012" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1013" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1014" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1015" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1016" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1017" ]
] [
fhir:reference [ fhir:v "Observation/Pgx-var-1018" ]
] ) ; #
fhir:component ( [
fhir:code [
( fhir:coding [
a loinc:48018-6 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "48018-6" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:2621" ] ;
fhir:display [ fhir:v "CYP2C19" ] ] ) ]
] ) . #
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