| Package | nw-gmsa.github.io |
| Resource Type | ValueSet |
| Id | GenomicRareAndInheritedDisease |
| FHIR Version | R4 |
| Source | https://nw-gmsa.github.io/https://build.fhir.org/ig/nw-gmsa/R4/ValueSet-GenomicRareAndInheritedDisease.html |
| URL | https://nw-gmsa.github.io/ValueSet/GenomicRareAndInheritedDisease |
| Version | 0.0.7 |
| Status | draft |
| Date | 2025-08-12T13:52:16+00:00 |
| Name | GenomicRareAndInheritedDisease |
| Title | Genomic Rare and Inherited Disease Test Directory |
| Realm | uk |
| Description | - See **National genomic test directory for rare and inherited disease** on [Genomic Test Directory](https://www.england.nhs.uk/publication/national-genomic-test-directories) |
No resources found
| CodeSystem | |
| England-GenomicTestDirectory | Genomic Test Directory |
Note: links and images are rebased to the (stated) source
Generated Narrative: ValueSet GenomicRareAndInheritedDisease
FHIRhttps://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory| Code | Display |
| R14.1 | Acutely unwell children with a likely monogenic disorder |
| R133.1 | Arrhythmogenic right ventricular cardiomyopathy |
| R391.1 | Barth syndrome |
| R128.1 | Brugada syndrome and cardiac sodium channel disease |
| R129.1 | Catecholaminergic polymorphic VT |
| R132.1 | Dilated and Arrhythmogenic cardiomyopathy |
| R140.1 | Elastin-related phenotypes |
| R384.1 | Generalised arterial calcification in infancy |
| R131.1 | Hypertrophic cardiomyopathy |
| R127.1 | Long QT syndrome |
| R135.2 | Paediatric or syndromic cardiomyopathy |
| R135.3 | Paediatric or syndromic cardiomyopathy |
| R136.1 | Primary lymphoedema |
| R328.1 | Progressive cardiac conduction disease |
| R130.1 | Short QT syndrome |
| R138.1 | Sudden unexplained death or survivors of a cardiac event |
| R240.1 | Diagnostic testing for known variant(s) |
| R242.1 | Predictive testing for known familial variant(s) |
{
"resourceType": "ValueSet",
"id": "GenomicRareAndInheritedDisease",
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"url": "https://nw-gmsa.github.io/ValueSet/GenomicRareAndInheritedDisease",
"version": "0.0.7",
"name": "GenomicRareAndInheritedDisease",
"title": "Genomic Rare and Inherited Disease Test Directory",
"status": "draft",
"experimental": false,
"date": "2025-08-12T13:52:16+00:00",
"publisher": "NHS North West GMSA",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.nw-gmsa.nhs.uk/contact-us"
}
]
}
],
"description": "- See **National genomic test directory for rare and inherited disease** on [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"
}
]
}
],
"compose": {
"include": [
{
"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
"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)"
}
]
}
]
}
}