NHS North West Genomics - Local Development build (v2.0.12) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
: Genomic Rare and Inherited Disease Test Directory - TTL Representation
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@prefix fhir: <http://hl7.org/fhir/> .
@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:ValueSet ;
fhir:nodeRole fhir:treeRoot ;
fhir:id [ fhir:v "GenomicRareAndInheritedDisease"] ; #
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: ValueSet GenomicRareAndInheritedDisease</b></p><a name=\"GenomicRareAndInheritedDisease\"> </a><a name=\"hcGenomicRareAndInheritedDisease\"> </a><ul><li>Include these codes as defined in <a href=\"CodeSystem-GenomicTestCode.html\"><code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code></a><span title=\"Version is not explicitly stated, which means it is fixed to the version provided in this specification\"> version ?2.0.12</span><table class=\"none\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R14.461\">R14.1</a></td><td style=\"color: #cccccc\">Acutely unwell children with a likely monogenic disorder (WGS)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R133.461\">R133.1</a></td><td style=\"color: #cccccc\">Arrhythmogenic right ventricular cardiomyopathy (Small panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R391.461\">R391.1</a></td><td style=\"color: #cccccc\">Barth syndrome (Single gene sequencing >=10 amplicons)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R128.461\">R128.1</a></td><td style=\"color: #cccccc\">Brugada syndrome and cardiac sodium channel disease (Small panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R129.461\">R129.1</a></td><td style=\"color: #cccccc\">Catecholaminergic polymorphic VT (Small panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R132.461\">R132.1</a></td><td style=\"color: #cccccc\">Dilated and Arrhythmogenic cardiomyopathy (WES or Medium Panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R140.461\">R140.1</a></td><td style=\"color: #cccccc\">Elastin-related phenotypes (Single gene sequencing >=10 amplicons)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R384.461\">R384.1</a></td><td style=\"color: #cccccc\">Generalised arterial calcification in infancy (Small panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R131.461\">R131.1</a></td><td style=\"color: #cccccc\">Hypertrophic cardiomyopathy (WES or Medium Panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R127.461\">R127.1</a></td><td style=\"color: #cccccc\">Long QT syndrome (Small panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R135.462\">R135.2</a></td><td style=\"color: #cccccc\">Paediatric or syndromic cardiomyopathy (WGS)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R135.463\">R135.3</a></td><td style=\"color: #cccccc\">Paediatric or syndromic cardiomyopathy (WES)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R136.461\">R136.1</a></td><td style=\"color: #cccccc\">Primary lymphoedema (WES or Medium Panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R328.461\">R328.1</a></td><td style=\"color: #cccccc\">Progressive cardiac conduction disease (WES or Small Panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R130.461\">R130.1</a></td><td style=\"color: #cccccc\">Short QT syndrome (Small panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R138.461\">R138.1</a></td><td style=\"color: #cccccc\">Sudden unexplained death or survivors of a cardiac event (WES or Medium Panel)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R240.461\">R240.1</a></td><td style=\"color: #cccccc\">Diagnostic testing for known variant(s) (Targeted variant testing)</td></tr><tr><td><a href=\"CodeSystem-GenomicTestCode.html#GenomicTestCode-R242.461\">R242.1</a></td><td style=\"color: #cccccc\">Predictive testing for known familial variant(s) (Targeted variant testing)</td></tr></table></li></ul></div>"^^rdf:XMLLiteral ]
] ; #
fhir:url [
fhir:v "https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicRareAndInheritedDisease"^^xsd:anyURI ;
fhir:l <https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicRareAndInheritedDisease>
] ; #
fhir:version [ fhir:v "2.0.12"] ; #
fhir:name [ fhir:v "GenomicRareAndInheritedDisease"] ; #
fhir:title [ fhir:v "Genomic Rare and Inherited Disease Test Directory"] ; #
fhir:status [ fhir:v "draft"] ; #
fhir:experimental [ fhir:v false] ; #
fhir:date [ fhir:v "2026-06-21T07:38:47+00:00"^^xsd:dateTime] ; #
fhir:publisher [ fhir:v "NHS North West Genomics"] ; #
fhir:contact ( [
( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nwgenomics.nhs.uk/contact-us" ] ] )
] ) ; #
fhir:description [ fhir:v "- See **National genomic test directory for rare and inherited disease** on [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)"] ; #
fhir:jurisdiction ( [
( fhir:coding [
fhir:system [
fhir:v "urn:iso:std:iso:3166"^^xsd:anyURI ;
fhir:l <urn:iso:std:iso:3166> ] ;
fhir:code [ fhir:v "GB" ] ;
fhir:display [ fhir:v "United Kingdom of Great Britain and Northern Ireland" ] ] )
] ) ; #
fhir:compose [
( fhir:include [
fhir:system [
fhir:v "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"^^xsd:anyURI ;
fhir:l <https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory> ] ;
( fhir:concept [
fhir:code [ fhir:v "R14.1" ] ] [
fhir:code [ fhir:v "R133.1" ] ] [
fhir:code [ fhir:v "R391.1" ] ] [
fhir:code [ fhir:v "R128.1" ] ] [
fhir:code [ fhir:v "R129.1" ] ] [
fhir:code [ fhir:v "R132.1" ] ] [
fhir:code [ fhir:v "R140.1" ] ] [
fhir:code [ fhir:v "R384.1" ] ] [
fhir:code [ fhir:v "R131.1" ] ] [
fhir:code [ fhir:v "R127.1" ] ] [
fhir:code [ fhir:v "R135.2" ] ] [
fhir:code [ fhir:v "R135.3" ] ] [
fhir:code [ fhir:v "R136.1" ] ] [
fhir:code [ fhir:v "R328.1" ] ] [
fhir:code [ fhir:v "R130.1" ] ] [
fhir:code [ fhir:v "R138.1" ] ] [
fhir:code [ fhir:v "R240.1" ] ] [
fhir:code [ fhir:v "R242.1" ] ] ) ] )
] . #
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