NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.1.4) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

CodeSystem: NHS England Genomic Clinical Indication Code

Official URL: https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication Version: 2.1.4
Draft as of 2025-05-08 Computable Name: GenomicClinicalIndication

1st level Genomic Test Directory Codes

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

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

CodeDisplay
R125 Thoracic aortic aneurysm or dissection
R240 Diagnostic testing for known mutation(s)
R361 Childhood onset hereditary spastic paraplegia
R362 Not present in 8.0
R372 Newborn screening for sickle cell disease in a transfused baby
R93 Sickle cell, thalassaemia and other haemoglobinopathies
R94 Not present in 8.0
R413 Autoinflammatory Disorders
R67 Monogenic hearing loss
R141 Monogenic diabetes
R142 Glucokinase-related fasting hyperglycaemia
R201 Atypical haemolytic uraemic syndrome
M9 Thyroid Papillary Carcinoma - Adult
M215 Endometrial Cancer
M4
R210 Inherited MMR deficiency (Lynch syndrome)
R185 Cystic fibrosis carrier

Description of the above table(s).