NHS North West Genomics
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NHS North West Genomics - Local Development build (v0.0.8) 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: 0.0.8
Draft as of 2025-05-08 Computable Name: GenomicClinicalIndication

1st level Genomic Test Directory Codes

This Code system is referenced in the content logical 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
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