North West Genomic Medicine Service Alliance
0.0.7 - ci-build
North West Genomic Medicine Service Alliance
0.0.7 - ci-build
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
| Active as of 2025-02-11 |
{
"resourceType" : "CodeSystem",
"id" : "NHSEngland-GenomicTestDirectory",
"text" : {
"status" : "generated",
"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>"
},
"url" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"version" : "0.0.7",
"name" : "NHSEnglandGenomicTestDirectory",
"title" : "Genomic Test Directory",
"status" : "active",
"experimental" : false,
"date" : "2025-02-11",
"publisher" : "NHS North West GMSA",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nw-gmsa.nhs.uk/contact-us"
}
]
}
],
"description" : "- [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories)",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "GB",
"display" : "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"caseSensitive" : true,
"content" : "fragment",
"concept" : [
{
"code" : "R14.1",
"display" : "Acutely unwell children with a likely monogenic disorder"
},
{
"code" : "R133.1",
"display" : "Arrhythmogenic right ventricular cardiomyopathy"
},
{
"code" : "R391.1",
"display" : "Barth syndrome"
},
{
"code" : "R128.1",
"display" : "Brugada syndrome and cardiac sodium channel disease"
},
{
"code" : "R129.1",
"display" : "Catecholaminergic polymorphic VT"
},
{
"code" : "R132.1",
"display" : "Dilated and Arrhythmogenic cardiomyopathy"
},
{
"code" : "R140.1",
"display" : "Elastin-related phenotypes"
},
{
"code" : "R384.1",
"display" : "Generalised arterial calcification in infancy"
},
{
"code" : "R131.1",
"display" : "Hypertrophic cardiomyopathy"
},
{
"code" : "R127.1",
"display" : "Long QT syndrome"
},
{
"code" : "R135.2",
"display" : "Paediatric or syndromic cardiomyopathy"
},
{
"code" : "R135.3",
"display" : "Paediatric or syndromic cardiomyopathy"
},
{
"code" : "R136.1",
"display" : "Primary lymphoedema"
},
{
"code" : "R328.1",
"display" : "Progressive cardiac conduction disease"
},
{
"code" : "R130.1",
"display" : "Short QT syndrome"
},
{
"code" : "R138.1",
"display" : "Sudden unexplained death or survivors of a cardiac event"
},
{
"code" : "R240.1",
"display" : "Diagnostic testing for known variant(s)"
},
{
"code" : "R242.1",
"display" : "Predictive testing for known familial variant(s)"
},
{
"code" : "R361.1",
"display" : "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
},
{
"code" : "R361.2",
"display" : "Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing"
},
{
"code" : "R372.1",
"display" : "Newborn screening for sickle cell disease in a transfused baby"
},
{
"code" : "R93.1",
"display" : "Sickle cell, thalassaemia and other haemoglobinopathies"
},
{
"code" : "R93.2",
"display" : "Sickle cell, thalassaemia and other haemoglobinopathies"
},
{
"code" : "M119.1"
},
{
"code" : "M119.2"
},
{
"code" : "M119.4"
},
{
"code" : "M119.5"
},
{
"code" : "M120.1"
},
{
"code" : "M120.2"
},
{
"code" : "M120.3"
},
{
"code" : "M120.4"
},
{
"code" : "M120.5"
},
{
"code" : "M120.6"
},
{
"code" : "M120.7"
},
{
"code" : "M120.8"
},
{
"code" : "M120.9"
},
{
"code" : "M120.10"
},
{
"code" : "M120.11"
},
{
"code" : "M120.12"
},
{
"code" : "M120.13"
},
{
"code" : "M120.14"
},
{
"code" : "M120.15"
},
{
"code" : "M120.16"
}
]
}
IG © 2024+ NHS North West GMSA. Package nw-gmsa.github.io#0.0.7 based on FHIR 4.0.1. Generated 2025-08-20
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