NHS North West Genomics
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ValueSet: Genomic Clinical Indication Codes

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes Version: 2.1.4
Draft as of 2026-07-24 Computable Name: GenomicClinicalIndicationCodes

1st level classification of NHS England Genomic Test Directory codes

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem NHS England Genomic Clinical Indication Code v2.1.4 (CodeSystem)

This value set contains 17 concepts

SystemCodeDisplay (en)JSONXML
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R125Thoracic aortic aneurysm or dissection
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R240Diagnostic testing for known mutation(s)
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R361Childhood onset hereditary spastic paraplegia
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R362Not present in 8.0
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R372Newborn screening for sickle cell disease in a transfused baby
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R93Sickle cell, thalassaemia and other haemoglobinopathies
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R94Not present in 8.0
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R413Autoinflammatory Disorders
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R67Monogenic hearing loss
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R141Monogenic diabetes
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R142Glucokinase-related fasting hyperglycaemia
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R201Atypical haemolytic uraemic syndrome
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  M9Thyroid Papillary Carcinoma - Adult
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  M215Endometrial Cancer
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  M4
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R210Inherited MMR deficiency (Lynch syndrome)
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication  R185Cystic fibrosis carrier

Description of the above table(s).