NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.0.12) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Genomic Cancer Test Directory

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicCancer Version: 2.0.12
Draft as of 2026-06-21 Computable Name: GenomicCancer

References

Logical Definition (CLD)

  • Include these codes as defined in https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory version 📦2.0.12
    CodeDisplay
    M120.1Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1)
    M120.2Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 seq
    M120.3Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 seq
    M120.4Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 copy number FISH
    M120.5Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 copy number FISH
    M120.6Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, structural variant
    M120.7Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-KIAA1549 FISH/RT-PCR
    M120.8Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FXR1 FISH/RT-PCR
    M120.9Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AGK FISH/RT-PCR
    M120.10Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AKAP9 FISH/RT-PCR
    M120.11Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-CCDC6 FISH/RT-PCR
    M120.12Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FAM118B FISH/RT-PCR
    M120.13Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-GNAI1 FISH/RT-PCR
    M120.14Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-MACF1 FISH/RT-PCR
    M120.15Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF rearrangement FISH
    M120.16Atypical Teratoid/Rhabdoid Tumour, Paediatric, WGS Germline and Tumour

 

Expansion

Expansion performed internally based on codesystem NHS England Genomic Test Code v2.0.12 (CodeSystem)

This value set contains 16 concepts

SystemCodeDisplay (en)JSONXML
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.1Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, small variant (SMARCA4, SMARCB1)
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.2Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 seq
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.3Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 seq
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.4Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCA4 copy number FISH
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.5Atypical Teratoid/Rhabdoid Tumour, Paediatric, SMARCB1 copy number FISH
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.6Atypical Teratoid/Rhabdoid Tumour, Paediatric, Multi-target NGS panel, structural variant
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.7Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-KIAA1549 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.8Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FXR1 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.9Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AGK FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.10Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-AKAP9 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.11Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-CCDC6 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.12Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-FAM118B FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.13Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-GNAI1 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.14Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF-MACF1 FISH/RT-PCR
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.15Atypical Teratoid/Rhabdoid Tumour, Paediatric, BRAF rearrangement FISH
https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory  M120.16Atypical Teratoid/Rhabdoid Tumour, Paediatric, WGS Germline and Tumour

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