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
: genomicstudy-trio2 - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@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:Procedure ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "genomicstudy-trio2"] ; #
fhir:meta [
( fhir:profile [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study"^^xsd:anyURI ;
fhir:link <http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "extensions" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative: Procedure</b><a name=\"genomicstudy-trio2\"> </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 Procedure "genomicstudy-trio2" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomic-study.html\">Genomic Study</a></p></div><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-genomicstudyanalysis-trio2.html\">Procedure/genomicstudyanalysis-trio2</a></p><p><b>Genomic Study Referrer Extension</b>: <a href=\"Practitioner-practitioner02.html\">Practitioner/practitioner02</a> " DOEL"</p><p><b>identifier</b>: id: urn:uuid:1111-1111-1111-1113 (use: TEMP)</p><p><b>status</b>: completed</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></p><p><b>code</b>: Trio Analysis <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p><p><b>subject</b>: <a href=\"Patient-denovoChild.html\">Patient/denovoChild</a> " DENOVO"</p><p><b>performed</b>: 2023-10-01</p><p><b>asserter</b>: <a href=\"Practitioner-practitioner02.html\">Practitioner/practitioner02</a> " DOEL"</p><p><b>note</b>: De novo mutation study of the patient. The Prenatal Trio Whole Exome Sequencing (Prenatal Trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when prenatal imaging detects an anomaly that strongly suggests that there is an underlying genetic etiology. Prenatal Trio WES is often considered only after fetal chromosome microarray analysis has been non-diagnostic.</p></div>"
] ; #
fhir:extension ( [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Procedure/genomicstudyanalysis-trio2" ] ]
] [
fhir:url [ fhir:v "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-referrer-ext"^^xsd:anyURI ] ;
fhir:value [
a fhir:Reference ;
fhir:reference [ fhir:v "Practitioner/practitioner02" ] ]
] ) ; #
fhir:identifier ( [
fhir:use [ fhir:v "temp" ] ;
fhir:system [ fhir:v "http://www.somesystemabc.net/identifiers/genomicstudies"^^xsd:anyURI ] ;
fhir:value [ fhir:v "urn:uuid:1111-1111-1111-1113" ]
] ) ; #
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:code [
fhir:text [ fhir:v "Trio Analysis" ]
] ; #
fhir:subject [
fhir:reference [ fhir:v "Patient/denovoChild" ]
] ; #
fhir:performed [ fhir:v "2023-10-01"^^xsd:date] ; #
fhir:asserter [
fhir:reference [ fhir:v "Practitioner/practitioner02" ]
] ; #
fhir:note ( [
fhir:text [ fhir:v "De novo mutation study of the patient. The Prenatal Trio Whole Exome Sequencing (Prenatal Trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when prenatal imaging detects an anomaly that strongly suggests that there is an underlying genetic etiology. Prenatal Trio WES is often considered only after fetal chromosome microarray analysis has been non-diagnostic." ]
] ) . #
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