Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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
: GenomicReportExample01 - 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:DiagnosticReport ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "GenomicReportExample01"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2><span title=\"Codes: {http://loinc.org 51969-4}, {http://loinc.org 57979-7}\">HLA-B*15:02 [Presence]</span> (<span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td><b>Adam B. Everyman </b> male, DoB: 1951-01-20 ( Medical Record Number/m123 (use: usual))</td></tr><tr><td>When For</td><td>2016</td></tr><tr><td>Reported</td><td>2018-03-06 00:00:00-0500</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-TherapeuticImplicationExample1.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td/><td>2019-04-01</td></tr><tr><td><a href=\"Observation-GenotypeExample1.html\"><span title=\"Codes: {http://loinc.org 84413-4}\">Genotype name Patient</span></a></td><td><span title=\"Codes: {http://www.ncbi.nlm.nih.gov/clinvar 14909}\">HLA-B*15:02</span></td><td>2019-04-01</td></tr></table><p>Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ.</p><p><b>Coded Conclusions :</b></p><ul><li><span title=\"Codes: {http://loinc.org LA6576-8}\">Positive</span></li></ul></div>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Task/MedicationRecommendationExample1" ] ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact"^^xsd:anyURI ] ;
fhir:value [
a fhir:RelatedArtifact ;
fhir:type [ fhir:v "citation" ] ;
fhir:url [ fhir:v "https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19)"^^xsd:anyURI ] ]
] ) ; #
fhir:basedOn ( [
fhir:reference [ fhir:v "ServiceRequest/GenomicServiceRequestExample01" ]
] ) ; #
fhir:status [ fhir:v "final"] ; #
fhir:category ( [
( 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:51969-4 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "51969-4" ] ] [
a loinc:57979-7 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "57979-7" ] ;
fhir:display [ fhir:v "HLA-B*15:02 [Presence]" ] ] )
] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/CGPatientExample01" ]
] ; #
fhir:effective [ fhir:v "2016"^^xsd:gYear] ; #
fhir:issued [ fhir:v "2018-03-06T00:00:00-05:00"^^xsd:dateTime] ; #
fhir:performer ( [
fhir:reference [ fhir:v "Organization/ExampleOrg" ]
] ) ; #
fhir:result ( [
fhir:reference [ fhir:v "Observation/TherapeuticImplicationExample1" ] ;
fhir:display [ fhir:v "impact for high risk allele" ]
] [
fhir:reference [ fhir:v "Observation/GenotypeExample1" ]
] ) ; #
fhir:conclusion [ fhir:v "Patient is positive for high risk allele HLA-B*15:02 and should not be treated with CBZ."] ; #
fhir:conclusionCode ( [
( fhir:coding [
a loinc:LA6576-8 ;
fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
fhir:code [ fhir:v "LA6576-8" ] ;
fhir:display [ fhir:v "Positive" ] ] )
] ) . #
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