NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 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
: DiagnosticImplication - Cystic Fibrosis Carrier - 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 sct: <http://snomed.info/id/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
# - resource -------------------------------------------------------------------
a fhir:Observation ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "a954a98c-f427-4968-9022-8b760de66628"] ; #
fhir:meta [
( fhir:profile [
fhir:v "https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-DiagnosticImplication"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/StructureDefinition/Observation-DiagnosticImplication> ] )
] ; #
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 a954a98c-f427-4968-9022-8b760de66628</b></p><a name=\"a954a98c-f427-4968-9022-8b760de66628\"> </a><a name=\"hca954a98c-f427-4968-9022-8b760de66628\"> </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-Observation-DiagnosticImplication.html\">Observation Diagnostic Implication</a></p></div><p><b>identifier</b>: a954a98c-f427-4968-9022-8b760de66628</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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}\">Diagnostic Implication</span></p><p><b>subject</b>: <a href=\"Patient-Patient-Manchester.html\">Liam MANCHESTER</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><p><b>derivedFrom</b>: <a href=\"Observation-bca547c1-78a5-41be-8cfc-03c05805ac85.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53037-8}\">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6668-3}\">Pathogenic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81259-4}\">Associated phenotype</span></p><p><b>value</b>: <span title=\"Codes:{https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication R185}, {http://snomed.info/sct 441520002}\">Cystic fibrosis carrier testing</span></p></blockquote></div>"^^rdf:XMLLiteral ]
] ; #
fhir:identifier ( [
fhir:value [ fhir:v "a954a98c-f427-4968-9022-8b760de66628" ]
] ) ; #
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 [
fhir:system [
fhir:v "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"^^xsd:anyURI ;
fhir:l <http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs> ] ;
fhir:code [ fhir:v "diagnostic-implication" ] ;
fhir:display [ fhir:v "Diagnostic Implication" ] ] )
] ; #
fhir:subject [
fhir:l fhir:Patient/Patient-Manchester ;
fhir:reference [ fhir:v "Patient/Patient-Manchester" ] ;
fhir:display [ fhir:v "Liam MANCHESTER" ]
] ; #
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:derivedFrom ( [
fhir:l fhir:Observation/bca547c1-78a5-41be-8cfc-03c05805ac85 ;
fhir:reference [ fhir:v "Observation/bca547c1-78a5-41be-8cfc-03c05805ac85" ]
] ) ; #
fhir:component ( [
fhir:code [
( fhir:coding [
a loinc:53037-8 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "53037-8" ] ;
fhir:display [ fhir:v "Genetic variation clinical significance [Imp]" ] ] ) ] ;
fhir:value [
a fhir:CodeableConcept ;
( fhir:coding [
a loinc:LA6668-3 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "LA6668-3" ] ;
fhir:display [ fhir:v "Pathogenic" ] ] ) ]
] [
fhir:code [
( fhir:coding [
a loinc:81259-4 ;
fhir:system [
fhir:v "http://loinc.org"^^xsd:anyURI ;
fhir:l <http://loinc.org> ] ;
fhir:code [ fhir:v "81259-4" ] ] ) ] ;
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 carrier testing" ] ] [
a sct:441520002 ;
fhir:system [
fhir:v "http://snomed.info/sct"^^xsd:anyURI ;
fhir:l <http://snomed.info/sct> ] ;
fhir:code [ fhir:v "441520002" ] ;
fhir:display [ fhir:v "Carrier of cystic fibrosis gene mutation" ] ] ) ;
fhir:text [ fhir:v "Cystic fibrosis carrier testing" ] ]
] ) . #
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