NHS North West Genomics
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NHS North West Genomics - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

CodeSystem: NHS England Genomic Test Code

Official URL: https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory Version: 0.1.0
Active as of 2025-02-11 Computable Name: GenomicTestCode

HL7 v2 CodeSystem : England-GenomicTestDirectory

This Code system is referenced in the content logical definition of the following value sets:

This case-sensitive code system https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory provides a fragment that includes following codes:

CodeDisplay
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)
R361.1 Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing
R361.2 Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing
R372.1 Newborn screening for sickle cell disease in a transfused baby
R93.1 Sickle cell, thalassaemia and other haemoglobinopathies
R93.2 Sickle cell, thalassaemia and other haemoglobinopathies
M119.1
M119.2
M119.4
M119.5
M120.1
M120.2
M120.3
M120.4
M120.5
M120.6
M120.7
M120.8
M120.9
M120.10
M120.11
M120.12
M120.13
M120.14
M120.15
M120.16