North West Genomic Medicine Service Alliance
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North West Genomic Medicine Service Alliance - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

: Genomic Test Directory - TTL Representation

Active as of 2025-02-11

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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:CodeSystem ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "NHSEngland-GenomicTestDirectory"] ; # 
  fhir:text [
fhir:status [ fhir:v "generated" ] ;
fhir:div "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem NHSEngland-GenomicTestDirectory</b></p><a name=\"NHSEngland-GenomicTestDirectory\"> </a><a name=\"hcNHSEngland-GenomicTestDirectory\"> </a><p>This case-sensitive code system <code>https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory</code> provides <b>a fragment</b> that includes following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">R14.1<a name=\"NHSEngland-GenomicTestDirectory-R14.461\"> </a></td><td>Acutely unwell children with a likely monogenic disorder</td></tr><tr><td style=\"white-space:nowrap\">R133.1<a name=\"NHSEngland-GenomicTestDirectory-R133.461\"> </a></td><td>Arrhythmogenic right ventricular cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R391.1<a name=\"NHSEngland-GenomicTestDirectory-R391.461\"> </a></td><td>Barth syndrome</td></tr><tr><td style=\"white-space:nowrap\">R128.1<a name=\"NHSEngland-GenomicTestDirectory-R128.461\"> </a></td><td>Brugada syndrome and cardiac sodium channel disease</td></tr><tr><td style=\"white-space:nowrap\">R129.1<a name=\"NHSEngland-GenomicTestDirectory-R129.461\"> </a></td><td>Catecholaminergic polymorphic VT</td></tr><tr><td style=\"white-space:nowrap\">R132.1<a name=\"NHSEngland-GenomicTestDirectory-R132.461\"> </a></td><td>Dilated and Arrhythmogenic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R140.1<a name=\"NHSEngland-GenomicTestDirectory-R140.461\"> </a></td><td>Elastin-related phenotypes</td></tr><tr><td style=\"white-space:nowrap\">R384.1<a name=\"NHSEngland-GenomicTestDirectory-R384.461\"> </a></td><td>Generalised arterial calcification in infancy</td></tr><tr><td style=\"white-space:nowrap\">R131.1<a name=\"NHSEngland-GenomicTestDirectory-R131.461\"> </a></td><td>Hypertrophic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R127.1<a name=\"NHSEngland-GenomicTestDirectory-R127.461\"> </a></td><td>Long QT syndrome</td></tr><tr><td style=\"white-space:nowrap\">R135.2<a name=\"NHSEngland-GenomicTestDirectory-R135.462\"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R135.3<a name=\"NHSEngland-GenomicTestDirectory-R135.463\"> </a></td><td>Paediatric or syndromic cardiomyopathy</td></tr><tr><td style=\"white-space:nowrap\">R136.1<a name=\"NHSEngland-GenomicTestDirectory-R136.461\"> </a></td><td>Primary lymphoedema</td></tr><tr><td style=\"white-space:nowrap\">R328.1<a name=\"NHSEngland-GenomicTestDirectory-R328.461\"> </a></td><td>Progressive cardiac conduction disease</td></tr><tr><td style=\"white-space:nowrap\">R130.1<a name=\"NHSEngland-GenomicTestDirectory-R130.461\"> </a></td><td>Short QT syndrome</td></tr><tr><td style=\"white-space:nowrap\">R138.1<a name=\"NHSEngland-GenomicTestDirectory-R138.461\"> </a></td><td>Sudden unexplained death or survivors of a cardiac event</td></tr><tr><td style=\"white-space:nowrap\">R240.1<a name=\"NHSEngland-GenomicTestDirectory-R240.461\"> </a></td><td>Diagnostic testing for known variant(s)</td></tr><tr><td style=\"white-space:nowrap\">R242.1<a name=\"NHSEngland-GenomicTestDirectory-R242.461\"> </a></td><td>Predictive testing for known familial variant(s)</td></tr><tr><td style=\"white-space:nowrap\">R361.1<a name=\"NHSEngland-GenomicTestDirectory-R361.461\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing</td></tr><tr><td style=\"white-space:nowrap\">R361.2<a name=\"NHSEngland-GenomicTestDirectory-R361.462\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing</td></tr><tr><td style=\"white-space:nowrap\">R372.1<a name=\"NHSEngland-GenomicTestDirectory-R372.461\"> </a></td><td>Newborn screening for sickle cell disease in a transfused baby</td></tr><tr><td style=\"white-space:nowrap\">R93.1<a name=\"NHSEngland-GenomicTestDirectory-R93.461\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style=\"white-space:nowrap\">R93.2<a name=\"NHSEngland-GenomicTestDirectory-R93.462\"> </a></td><td>Sickle cell, thalassaemia and other haemoglobinopathies</td></tr><tr><td style=\"white-space:nowrap\">M119.1<a name=\"NHSEngland-GenomicTestDirectory-M119.461\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M119.2<a name=\"NHSEngland-GenomicTestDirectory-M119.462\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M119.4<a name=\"NHSEngland-GenomicTestDirectory-M119.464\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M119.5<a name=\"NHSEngland-GenomicTestDirectory-M119.465\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.1<a name=\"NHSEngland-GenomicTestDirectory-M120.461\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.2<a name=\"NHSEngland-GenomicTestDirectory-M120.462\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.3<a name=\"NHSEngland-GenomicTestDirectory-M120.463\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.4<a name=\"NHSEngland-GenomicTestDirectory-M120.464\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.5<a name=\"NHSEngland-GenomicTestDirectory-M120.465\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.6<a name=\"NHSEngland-GenomicTestDirectory-M120.466\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.7<a name=\"NHSEngland-GenomicTestDirectory-M120.467\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.8<a name=\"NHSEngland-GenomicTestDirectory-M120.468\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.9<a name=\"NHSEngland-GenomicTestDirectory-M120.469\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.10<a name=\"NHSEngland-GenomicTestDirectory-M120.4610\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.11<a name=\"NHSEngland-GenomicTestDirectory-M120.4611\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.12<a name=\"NHSEngland-GenomicTestDirectory-M120.4612\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.13<a name=\"NHSEngland-GenomicTestDirectory-M120.4613\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.14<a name=\"NHSEngland-GenomicTestDirectory-M120.4614\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.15<a name=\"NHSEngland-GenomicTestDirectory-M120.4615\"> </a></td><td/></tr><tr><td style=\"white-space:nowrap\">M120.16<a name=\"NHSEngland-GenomicTestDirectory-M120.4616\"> </a></td><td/></tr></table></div>"^^rdf:XMLLiteral
  ] ; # 
  fhir:url [ fhir:v "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"^^xsd:anyURI] ; # 
  fhir:version [ fhir:v "0.0.7"] ; # 
  fhir:name [ fhir:v "NHSEnglandGenomicTestDirectory"] ; # 
  fhir:title [ fhir:v "Genomic Test Directory"] ; # 
  fhir:status [ fhir:v "active"] ; # 
  fhir:experimental [ fhir:v false] ; # 
  fhir:date [ fhir:v "2025-02-11"^^xsd:date] ; # 
  fhir:publisher [ fhir:v "NHS North West GMSA"] ; # 
  fhir:contact ( [
    ( fhir:telecom [
fhir:system [ fhir:v "url" ] ;
fhir:value [ fhir:v "https://www.nw-gmsa.nhs.uk/contact-us" ]     ] )
  ] ) ; # 
  fhir:description [ fhir:v "- [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:code [ fhir:v "GB" ] ;
fhir:display [ fhir:v "United Kingdom of Great Britain and Northern Ireland" ]     ] )
  ] ) ; # 
  fhir:caseSensitive [ fhir:v true] ; # 
  fhir:content [ fhir:v "fragment"] ; # 
  fhir:concept ( [
fhir:code [ fhir:v "R14.1" ] ;
fhir:display [ fhir:v "Acutely unwell children with a likely monogenic disorder" ]
  ] [
fhir:code [ fhir:v "R133.1" ] ;
fhir:display [ fhir:v "Arrhythmogenic right ventricular cardiomyopathy" ]
  ] [
fhir:code [ fhir:v "R391.1" ] ;
fhir:display [ fhir:v "Barth syndrome" ]
  ] [
fhir:code [ fhir:v "R128.1" ] ;
fhir:display [ fhir:v "Brugada syndrome and cardiac sodium channel disease" ]
  ] [
fhir:code [ fhir:v "R129.1" ] ;
fhir:display [ fhir:v "Catecholaminergic polymorphic VT" ]
  ] [
fhir:code [ fhir:v "R132.1" ] ;
fhir:display [ fhir:v "Dilated and Arrhythmogenic cardiomyopathy" ]
  ] [
fhir:code [ fhir:v "R140.1" ] ;
fhir:display [ fhir:v "Elastin-related phenotypes" ]
  ] [
fhir:code [ fhir:v "R384.1" ] ;
fhir:display [ fhir:v "Generalised arterial calcification in infancy" ]
  ] [
fhir:code [ fhir:v "R131.1" ] ;
fhir:display [ fhir:v "Hypertrophic cardiomyopathy" ]
  ] [
fhir:code [ fhir:v "R127.1" ] ;
fhir:display [ fhir:v "Long QT syndrome" ]
  ] [
fhir:code [ fhir:v "R135.2" ] ;
fhir:display [ fhir:v "Paediatric or syndromic cardiomyopathy" ]
  ] [
fhir:code [ fhir:v "R135.3" ] ;
fhir:display [ fhir:v "Paediatric or syndromic cardiomyopathy" ]
  ] [
fhir:code [ fhir:v "R136.1" ] ;
fhir:display [ fhir:v "Primary lymphoedema" ]
  ] [
fhir:code [ fhir:v "R328.1" ] ;
fhir:display [ fhir:v "Progressive cardiac conduction disease" ]
  ] [
fhir:code [ fhir:v "R130.1" ] ;
fhir:display [ fhir:v "Short QT syndrome" ]
  ] [
fhir:code [ fhir:v "R138.1" ] ;
fhir:display [ fhir:v "Sudden unexplained death or survivors of a cardiac event" ]
  ] [
fhir:code [ fhir:v "R240.1" ] ;
fhir:display [ fhir:v "Diagnostic testing for known variant(s)" ]
  ] [
fhir:code [ fhir:v "R242.1" ] ;
fhir:display [ fhir:v "Predictive testing for known familial variant(s)" ]
  ] [
fhir:code [ fhir:v "R361.1" ] ;
fhir:display [ fhir:v "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing" ]
  ] [
fhir:code [ fhir:v "R361.2" ] ;
fhir:display [ fhir:v "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing" ]
  ] [
fhir:code [ fhir:v "R372.1" ] ;
fhir:display [ fhir:v "Newborn screening for sickle cell disease in a transfused baby" ]
  ] [
fhir:code [ fhir:v "R93.1" ] ;
fhir:display [ fhir:v "Sickle cell, thalassaemia and other haemoglobinopathies" ]
  ] [
fhir:code [ fhir:v "R93.2" ] ;
fhir:display [ fhir:v "Sickle cell, thalassaemia and other haemoglobinopathies" ]
  ] [
fhir:code [ fhir:v "M119.1" ]
  ] [
fhir:code [ fhir:v "M119.2" ]
  ] [
fhir:code [ fhir:v "M119.4" ]
  ] [
fhir:code [ fhir:v "M119.5" ]
  ] [
fhir:code [ fhir:v "M120.1" ]
  ] [
fhir:code [ fhir:v "M120.2" ]
  ] [
fhir:code [ fhir:v "M120.3" ]
  ] [
fhir:code [ fhir:v "M120.4" ]
  ] [
fhir:code [ fhir:v "M120.5" ]
  ] [
fhir:code [ fhir:v "M120.6" ]
  ] [
fhir:code [ fhir:v "M120.7" ]
  ] [
fhir:code [ fhir:v "M120.8" ]
  ] [
fhir:code [ fhir:v "M120.9" ]
  ] [
fhir:code [ fhir:v "M120.10" ]
  ] [
fhir:code [ fhir:v "M120.11" ]
  ] [
fhir:code [ fhir:v "M120.12" ]
  ] [
fhir:code [ fhir:v "M120.13" ]
  ] [
fhir:code [ fhir:v "M120.14" ]
  ] [
fhir:code [ fhir:v "M120.15" ]
  ] [
fhir:code [ fhir:v "M120.16" ]
  ] ) . #