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

ValueSet: Genomic Test Codes

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicTestCodes Version: 0.0.7
Draft as of 2025-09-16 Computable Name: GenomicTestCodes

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

 

Expansion

Expansion based on code system fragment https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory NHS England Genomic Test Code v0.0.7 (CodeSystem)

Expansion performed internally based on codesystem NHS England Genomic Test Code v0.0.7 (CodeSystem)

This value set contains at least 43 concepts

CodeSystemDisplay
  R14.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryAcutely unwell children with a likely monogenic disorder
  R133.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryArrhythmogenic right ventricular cardiomyopathy
  R391.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryBarth syndrome
  R128.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryBrugada syndrome and cardiac sodium channel disease
  R129.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryCatecholaminergic polymorphic VT
  R132.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryDilated and Arrhythmogenic cardiomyopathy
  R140.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryElastin-related phenotypes
  R384.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryGeneralised arterial calcification in infancy
  R131.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryHypertrophic cardiomyopathy
  R127.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryLong QT syndrome
  R135.2https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryPaediatric or syndromic cardiomyopathy
  R135.3https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryPaediatric or syndromic cardiomyopathy
  R136.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryPrimary lymphoedema
  R328.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryProgressive cardiac conduction disease
  R130.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryShort QT syndrome
  R138.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectorySudden unexplained death or survivors of a cardiac event
  R240.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryDiagnostic testing for known variant(s)
  R242.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryPredictive testing for known familial variant(s)
  R361.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectorySickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing
  R361.2https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectorySickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing
  R372.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectoryNewborn screening for sickle cell disease in a transfused baby
  R93.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectorySickle cell, thalassaemia and other haemoglobinopathies
  R93.2https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectorySickle cell, thalassaemia and other haemoglobinopathies
  M119.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M119.2https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M119.4https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M119.5https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.1https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.2https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.3https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.4https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.5https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.6https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.7https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.8https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.9https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.10https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.11https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.12https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.13https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.14https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.15https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory
  M120.16https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory

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