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

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 Test Outcome Codes

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

Test Outcome Codes from NHS England Genomic Test Outcome Codes

References

Logical Definition (CLD)

 

Expansion

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

This value set contains 23 concepts

SystemCodeDisplay (en)DefinitionJSONXML
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  311RESULT CONSISTENT WITH REFERRAL INDICATION
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  312RESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  313GENETIC CAUSE WAS NOT FOUND
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  314RESULT OF UNCERTAIN SIGNIFICANCE
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  321VARIANT DETECTED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  322VARIANT NOT DETECTED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  323FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  331VARIANT(S) DETECTED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  332VARIANT(S) NOT DETECTED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  411ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  412ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  413NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  421VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  422WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  423WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  431TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  432NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  961ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  962NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  971FAILURE
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  981ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  991OTHER (NOT LISTED)
https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode  992CAVEATED RESULT

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