NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Rare and Inherited Disease Test Directory

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicRareAndInheritedDisease Version: 0.0.8
Draft as of 2025-10-30 Computable Name: GenomicRareAndInheritedDisease

References

Logical Definition (CLD)

  • Include these codes as defined in https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦0.0.8
    CodeDisplay
    R14.1Acutely unwell children with a likely monogenic disorder
    R133.1Arrhythmogenic right ventricular cardiomyopathy
    R391.1Barth syndrome
    R128.1Brugada syndrome and cardiac sodium channel disease
    R129.1Catecholaminergic polymorphic VT
    R132.1Dilated and Arrhythmogenic cardiomyopathy
    R140.1Elastin-related phenotypes
    R384.1Generalised arterial calcification in infancy
    R131.1Hypertrophic cardiomyopathy
    R127.1Long QT syndrome
    R135.2Paediatric or syndromic cardiomyopathy
    R135.3Paediatric or syndromic cardiomyopathy
    R136.1Primary lymphoedema
    R328.1Progressive cardiac conduction disease
    R130.1Short QT syndrome
    R138.1Sudden unexplained death or survivors of a cardiac event
    R240.1Diagnostic testing for known variant(s)
    R242.1Predictive testing for known familial variant(s)

 

Expansion

Expansion performed internally based on codesystem NHS England Genomic Test Code v0.0.8 (CodeSystem)

This value set contains 18 concepts

SystemCodeDisplay (en)DefinitionJSONXML
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R14.1Acutely unwell children with a likely monogenic disorder
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R133.1Arrhythmogenic right ventricular cardiomyopathy
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R391.1Barth syndrome
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R128.1Brugada syndrome and cardiac sodium channel disease
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R129.1Catecholaminergic polymorphic VT
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R132.1Dilated and Arrhythmogenic cardiomyopathy
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R140.1Elastin-related phenotypes
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R384.1Generalised arterial calcification in infancy
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R131.1Hypertrophic cardiomyopathy
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R127.1Long QT syndrome
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R135.2Paediatric or syndromic cardiomyopathy
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R135.3Paediatric or syndromic cardiomyopathy
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R136.1Primary lymphoedema
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R328.1Progressive cardiac conduction disease
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R130.1Short QT syndrome
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R138.1Sudden unexplained death or survivors of a cardiac event
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R240.1Diagnostic testing for known variant(s)
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  R242.1Predictive testing for known familial variant(s)

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