NHS North West Genomics
0.0.7 - ci-build United Kingdom flag

NHS North West Genomics - Local Development build (v0.0.7) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Genomic Clinical Indication Codes

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes Version: 0.0.7
Draft as of 2025-09-16 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 v0.0.7 (CodeSystem)

Expansion performed internally based on codesystem NHS England Genomic Clinical Indication Code v0.0.7 (CodeSystem)

This value set contains at least 13 concepts

CodeSystemDisplay
  R240https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationDiagnostic testing for known mutation(s)
  R361https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationChildhood onset hereditary spastic paraplegia
  R362https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationNot present in 8.0
  R372https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationNewborn screening for sickle cell disease in a transfused baby
  R93https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationSickle cell, thalassaemia and other haemoglobinopathies
  R94https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationNot present in 8.0
  R413https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationAutoinflammatory Disorders
  R67https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationMonogenic hearing loss
  R141https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationMonogenic diabetes
  R142https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationGlucokinase-related fasting hyperglycaemia
  R201https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationAtypical haemolytic uraemic syndrome
  M9https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationThyroid Papillary Carcinoma - Adult
  M215https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndicationEndometrial 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