Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

: genomicstudy-trio2 - TTL Representation

Raw ttl | Download


@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 class=\"res-header-id\"><b>Generated Narrative: Procedure genomicstudy-trio2</b></p><a name=\"genomicstudy-trio2\"> </a><a name=\"hcgenomicstudy-trio2\"> </a><a name=\"genomicstudy-trio2-en-US\"> </a><p><b>Genomic Study Analysis Extension</b>: <a href=\"Procedure-genomicstudyanalysis-trio2.html\">Procedure: extension = GRCh38,-&gt;Father Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 6789-11111 (use: temp, )),-&gt;Mother Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 0987-11111 (use: temp, )),Parental Sequence Variation Detection Using Next Generation Sequencing,-&gt;Procedure Sequencing of entire coding region of gene (procedure),,,,; instantiatesUri = https://pubmed.ncbi.nlm.nih.gov/33927380/; status = completed; category = Laboratory; performed[x] = 2023-10-01</a></p><p><b>Genomic Study Referrer Extension</b>: <a href=\"Practitioner-practitioner02.html\">Practitioner Jane Doel </a></p><p><b>identifier</b>: <code>http://www.somesystemabc.net/identifiers/genomicstudies</code>/urn:uuid:1111-1111-1111-1113 (use: temp, )</p><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>code</b>: <span title=\"Codes:\">Trio Analysis</span></p><p><b>subject</b>: <a href=\"Patient-denovoChild.html\">Child Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 1234-11111 (use: temp, ))</a></p><p><b>performed</b>: 2023-10-01</p><p><b>asserter</b>: <a href=\"Practitioner-practitioner02.html\">Practitioner Jane Doel </a></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." ]
  ] ) . #