NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.2.1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions
: Genomic Study (Panel) - Cystic Fibrosis - 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:Observation ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "7b362aa5-41a7-4168-94b4-f12dff0dfb2b"] ; #
fhir:meta [
( fhir:profile [
fhir:v "https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/StructureDefinition/GenomicStudyPanel> ] )
] ; #
fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation 7b362aa5-41a7-4168-94b4-f12dff0dfb2b</b></p><a name=\"7b362aa5-41a7-4168-94b4-f12dff0dfb2b\"> </a><a name=\"hc7b362aa5-41a7-4168-94b4-f12dff0dfb2b\"> </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-GenomicStudyPanel.html\">Genomic Study (Observation Panel)</a></p></div><p><b>identifier</b>: 7b362aa5-41a7-4168-94b4-f12dff0dfb2b</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81306-3}\">Variables that apply to the overall study</span></p><p><b>subject</b>: <a href=\"Patient-Patient-Lancaster.html\">Jaime LANCASTER</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href=\"PractitionerRole-59577028-8fcc-4554-8b43-988561d41d9c.html\">PractitionerRole</a></p><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 51967-8}\">Genetic disease(s) assessed</span></td><td><span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R185}\">Cystic fibrosis</span></td></tr></table></div>"^^rdf:XMLLiteral ]
] ; #
fhir:identifier ( [
fhir:value [ fhir:v "7b362aa5-41a7-4168-94b4-f12dff0dfb2b" ]
] ) ; #
fhir:status [ fhir:v "final"] ; #
fhir:category ( [
( fhir:coding [
fhir:system [
fhir:v "http://terminology.hl7.org/CodeSystem/v2-0074"^^xsd:anyURI ;
fhir:l <http://terminology.hl7.org/CodeSystem/v2-0074> ] ;
fhir:code [ fhir:v "GE" ] ;
fhir:display [ fhir:v "Genetics" ] ] )
] [
( fhir:coding [
fhir:system [
fhir:v "http://terminology.hl7.org/CodeSystem/observation-category"^^xsd:anyURI ;
fhir:l <http://terminology.hl7.org/CodeSystem/observation-category> ] ;
fhir:code [ fhir:v "laboratory" ] ] )
] ) ; #
fhir:code [
( fhir:coding [
a loinc:81306-3 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "81306-3" ] ;
fhir:display [ fhir:v "Variables that apply to the overall study" ] ] )
] ; #
fhir:subject [
fhir:l fhir:Patient/Patient-Lancaster ;
fhir:reference [ fhir:v "Patient/Patient-Lancaster" ] ;
fhir:display [ fhir:v "Jaime LANCASTER" ]
] ; #
fhir:effective [
a fhir:DateTime ;
fhir:v "2025-10-23T10:37:26+00:00"^^xsd:dateTime
] ; #
fhir:performer ( [
fhir:l fhir:PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c ;
fhir:reference [ fhir:v "PractitionerRole/59577028-8fcc-4554-8b43-988561d41d9c" ]
] ) ; #
fhir:component ( [
fhir:code [
( fhir:coding [
a loinc:51967-8 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "51967-8" ] ;
fhir:display [ fhir:v "Genetic disease(s) assessed" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
fhir:system [
fhir:v "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication> ] ;
fhir:code [ fhir:v "R185" ] ;
fhir:display [ fhir:v "Cystic fibrosis" ] ] ) ]
] ) . #
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