North West Genomic Medicine Service Alliance
0.0.7 - ci-build United Kingdom flag

North West Genomic Medicine Service Alliance, published by NHS North West GMSA. This guide is not an authorized publication; it is the continuous build for version 0.0.7 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/R4/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Test Outcome Codes

Official URL: https://nw-gmsa.github.io/ValueSet/GenomicTestOutcomeCodes Version: 0.0.7
Draft as of 2025-09-04 Computable Name: GenomicTestOutcomeCodes

Test Outcome Codes from GenomicTestOutcomeCode

References

Logical Definition (CLD)

 

Expansion

Expansion performed internally based on codesystem Genomic Test Outcome Code v0.0.7 (CodeSystem)

This value set contains 23 concepts

CodeSystemDisplay
  311https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeRESULT CONSISTENT WITH REFERRAL INDICATION
  312https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeRESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION
  313https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeGENETIC CAUSE WAS NOT FOUND
  314https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeRESULT OF UNCERTAIN SIGNIFICANCE
  321https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeVARIANT DETECTED
  322https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeVARIANT NOT DETECTED
  323https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeFAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED
  331https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeVARIANT(S) DETECTED
  332https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeVARIANT(S) NOT DETECTED
  411https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS
  412https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS
  413https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeNO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES
  421https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeVARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED
  422https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeWILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE
  423https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeWILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED
  431https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeTARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION
  432https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeNO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION
  961https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeACTIONABLE PHARMACOGENOMIC VARIANT DETECTED
  962https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeNO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED
  971https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeFAILURE
  981https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING
  991https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeOTHER (NOT LISTED)
  992https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCodeCAVEATED 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