NHS North West Genomics
0.0.8 - ci-build
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
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicTestCodes | Version: 0.0.8 | |||
| Draft as of 2025-10-30 | 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)
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦0.0.8
Expansion based on code system fragment https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory NHS England Genomic Test Code v0.0.8 (CodeSystem)
Expansion performed internally based on codesystem NHS England Genomic Test Code v0.0.8 (CodeSystem)
This value set contains at least 43 concepts
| System | Code | Display (en) | Definition | JSON | XML |
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R14.1 | Acutely unwell children with a likely monogenic disorder | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R133.1 | Arrhythmogenic right ventricular cardiomyopathy | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R391.1 | Barth syndrome | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R128.1 | Brugada syndrome and cardiac sodium channel disease | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R129.1 | Catecholaminergic polymorphic VT | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R132.1 | Dilated and Arrhythmogenic cardiomyopathy | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R140.1 | Elastin-related phenotypes | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R384.1 | Generalised arterial calcification in infancy | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R131.1 | Hypertrophic cardiomyopathy | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R127.1 | Long QT syndrome | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R135.2 | Paediatric or syndromic cardiomyopathy | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R135.3 | Paediatric or syndromic cardiomyopathy | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R136.1 | Primary lymphoedema | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R328.1 | Progressive cardiac conduction disease | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R130.1 | Short QT syndrome | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R138.1 | Sudden unexplained death or survivors of a cardiac event | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R240.1 | Diagnostic testing for known variant(s) | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R242.1 | Predictive testing for known familial variant(s) | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R361.1 | Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R361.2 | Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R372.1 | Newborn screening for sickle cell disease in a transfused baby | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R93.1 | Sickle cell, thalassaemia and other haemoglobinopathies | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | R93.2 | Sickle cell, thalassaemia and other haemoglobinopathies | |||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M119.1 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M119.2 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M119.4 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M119.5 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.1 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.2 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.3 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.4 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.5 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.6 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.7 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.8 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.9 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.10 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.11 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.12 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.13 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.14 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.15 | ||||
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory | M120.16 |
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 |