NHS North West Genomics
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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

ValueSet: Genomic Clinical Indication Codes

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes Version: 0.0.8
Draft as of 2025-10-30 Computable Name: GenomicClinicalIndicationCodes

1st level classification of NHS England Genomic Test Directory codes

References

Logical Definition (CLD)

 

Expansion

Expansion based on code system fragment https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication NHS England Genomic Clinical Indication Code v0.0.8 (CodeSystem)

Expansion performed internally based on codesystem NHS England Genomic Clinical Indication Code v0.0.8 (CodeSystem)

This value set contains at least 13 concepts

SystemCodeDisplay (en)DefinitionJSONXML
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

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