NHS North West Genomics
0.2.2 - ci-build
NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.2.2 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
| Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes | Version: 0.2.2 | |||
| Draft as of 2026-04-19 | Computable Name: GenomicClinicalIndicationCodes | |||
1st level classification of NHS England Genomic Test Directory codes
References
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication version 📦0.2.2
Expansion performed internally based on codesystem NHS England Genomic Clinical Indication Code v0.2.2 (CodeSystem)
This value set contains 13 concepts
| System | Code | Display (en) | JSON | XML |
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R240 | Diagnostic testing for known mutation(s) | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R361 | Childhood onset hereditary spastic paraplegia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R362 | Not present in 8.0 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R372 | Newborn screening for sickle cell disease in a transfused baby | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R93 | Sickle cell, thalassaemia and other haemoglobinopathies | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R94 | Not present in 8.0 | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R413 | Autoinflammatory Disorders | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R67 | Monogenic hearing loss | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R141 | Monogenic diabetes | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R142 | Glucokinase-related fasting hyperglycaemia | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | R201 | Atypical haemolytic uraemic syndrome | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M9 | Thyroid Papillary Carcinoma - Adult | ||
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicClinicalIndication | M215 | Endometrial 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 |