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
: PGXGenomicStudyAnalysis - 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 rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Procedure ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "PGXGenomicStudyAnalysis"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Procedure PGXGenomicStudyAnalysis</b></p><a name=\"PGXGenomicStudyAnalysis\"> </a><a name=\"hcPGXGenomicStudyAnalysis\"> </a><a name=\"PGXGenomicStudyAnalysis-en-US\"> </a><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\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study-analysis.html\">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Genome Build</b>: <span title=\"Codes:{http://loinc.org LA26806-2}\">GRCh38</span></p><blockquote><p><b>Genomic Study Analysis Metrics</b></p><ul><li>sequencing-coverage: 100</li></ul></blockquote><blockquote><p><b>Genomic Study Analysis Regions</b></p><ul><li>description: protein-coding and exon-splicing regions</li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:2621}\">CYP2C19</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:2623}\">CYP2C9</span></li><li>studied: <span title=\"Codes:{http://www.genenames.org HGNC:23663}\">VKORC1</span></li></ul></blockquote><p><b>status</b>: Completed</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</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>performed</b>: 2021-01-01 01:01:10-0600</p></div>"^^rdf:XMLLiteral
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
a loinc:LA26806-2 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA26806-2" ] ;
fhir:display [ fhir:v "GRCh38" ] ] ) ]
] [
( fhir:extension [
fhir:url [ fhir:v "sequencing-coverage"^^xsd:anyURI ] ;
fhir:value [
a fhir:Quantity ;
fhir:value [ fhir:v "100"^^xsd:decimal ] ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics"^^xsd:anyURI ]
] [
( fhir:extension [
fhir:url [ fhir:v "description"^^xsd:anyURI ] ;
fhir:value [
a fhir:string ;
fhir:v "protein-coding and exon-splicing regions" ] ] [
fhir:url [ fhir:v "studied"^^xsd:anyURI ] ;
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" ] ] ) ] ] [
fhir:url [ fhir:v "studied"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:2623" ] ;
fhir:display [ fhir:v "CYP2C9" ] ] ) ] ] [
fhir:url [ fhir:v "studied"^^xsd:anyURI ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [ fhir:v "http://www.genenames.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "HGNC:23663" ] ;
fhir:display [ fhir:v "VKORC1" ] ] ) ] ] ) ;
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions"^^xsd:anyURI ]
] ) ; #
fhir:status [ fhir:v "completed"] ; #
fhir:category [
( fhir:coding [
fhir:system [ fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ] ;
fhir:code [ fhir:v "laboratory" ] ] )
] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/CGPatientExample01" ]
] ; #
fhir:performed [
a fhir:dateTime ;
fhir:v "2021-01-01T01:01:10-06:00"^^xsd:dateTime
] . #
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