NHS North West Genomics
2.0.12 - ci-build
NHS North West Genomics
2.0.12 - ci-build
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
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicRareAndInheritedDisease | Version: 2.0.12 | |||
| Draft as of 2026-06-21 | Computable Name: GenomicRareAndInheritedDisease | |||
References
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.0.12| Code | Display |
| R14.1 | Acutely unwell children with a likely monogenic disorder (WGS) |
| R133.1 | Arrhythmogenic right ventricular cardiomyopathy (Small panel) |
| R391.1 | Barth syndrome (Single gene sequencing >=10 amplicons) |
| R128.1 | Brugada syndrome and cardiac sodium channel disease (Small panel) |
| R129.1 | Catecholaminergic polymorphic VT (Small panel) |
| R132.1 | Dilated and Arrhythmogenic cardiomyopathy (WES or Medium Panel) |
| R140.1 | Elastin-related phenotypes (Single gene sequencing >=10 amplicons) |
| R384.1 | Generalised arterial calcification in infancy (Small panel) |
| R131.1 | Hypertrophic cardiomyopathy (WES or Medium Panel) |
| R127.1 | Long QT syndrome (Small panel) |
| R135.2 | Paediatric or syndromic cardiomyopathy (WGS) |
| R135.3 | Paediatric or syndromic cardiomyopathy (WES) |
| R136.1 | Primary lymphoedema (WES or Medium Panel) |
| R328.1 | Progressive cardiac conduction disease (WES or Small Panel) |
| R130.1 | Short QT syndrome (Small panel) |
| R138.1 | Sudden unexplained death or survivors of a cardiac event (WES or Medium Panel) |
| R240.1 | Diagnostic testing for known variant(s) (Targeted variant testing) |
| R242.1 | Predictive testing for known familial variant(s) (Targeted variant testing) |
Expansion performed internally based on codesystem NHS England Genomic Test Code v2.0.12 (CodeSystem)
This value set contains 18 concepts
| System | Code | Display (en) | JSON | XML |
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R14.1 | Acutely unwell children with a likely monogenic disorder (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R133.1 | Arrhythmogenic right ventricular cardiomyopathy (Small panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R391.1 | Barth syndrome (Single gene sequencing >=10 amplicons) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R128.1 | Brugada syndrome and cardiac sodium channel disease (Small panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R129.1 | Catecholaminergic polymorphic VT (Small panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R132.1 | Dilated and Arrhythmogenic cardiomyopathy (WES or Medium Panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R140.1 | Elastin-related phenotypes (Single gene sequencing >=10 amplicons) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R384.1 | Generalised arterial calcification in infancy (Small panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R131.1 | Hypertrophic cardiomyopathy (WES or Medium Panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R127.1 | Long QT syndrome (Small panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R135.2 | Paediatric or syndromic cardiomyopathy (WGS) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R135.3 | Paediatric or syndromic cardiomyopathy (WES) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R136.1 | Primary lymphoedema (WES or Medium Panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R328.1 | Progressive cardiac conduction disease (WES or Small Panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R130.1 | Short QT syndrome (Small panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R138.1 | Sudden unexplained death or survivors of a cardiac event (WES or Medium Panel) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R240.1 | Diagnostic testing for known variant(s) (Targeted variant testing) | ||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R242.1 | Predictive testing for known familial variant(s) (Targeted variant testing) |
Explanation of the columns that may appear on this page:
| Level | A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies |
| System | The source of the definition of the code (when the value set draws in codes defined elsewhere) |
| Code | The code (used as the code in the resource instance) |
| Display | The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application |
| Definition | An explanation of the meaning of the concept |
| Comments | Additional notes about how to use the code |
IG © 2024+ NHS North West Genomics. Package fhir.nwgenomics.nhs.uk#2.0.12 based on FHIR 4.0.1. Generated 2026-06-21
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