North West Genomic Medicine Service Alliance
0.0.7 - ci-build
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
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
Expansion performed internally based on codesystem Genomic Test Outcome Code v0.0.7 (CodeSystem)
This value set contains 23 concepts
Code | System | Display |
311 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | RESULT CONSISTENT WITH REFERRAL INDICATION |
312 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | RESULT PARTIALLY CAUSATIVE OF REFERRAL INDICATION |
313 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | GENETIC CAUSE WAS NOT FOUND |
314 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | RESULT OF UNCERTAIN SIGNIFICANCE |
321 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | VARIANT DETECTED |
322 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | VARIANT NOT DETECTED |
323 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | FAMILY MEMBER TESTED TO AID INTERPRETATION OF PROBAND’S TEST; NOT INDEPENDENTLY ANALYSED |
331 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | VARIANT(S) DETECTED |
332 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | VARIANT(S) NOT DETECTED |
411 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED CONTRIBUTING TO THE SUSPECTED DIAGNOSIS |
412 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH CONTRIBUTES TO AN ALTERNATIVE DIAGNOSIS |
413 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | NO ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED WHICH REDUCES LIKELIHOOD BUT DOES NOT EXCLUDE (DIFFERENTIAL) DIAGNOSIS/DIAGNOSES |
421 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | VARIANT DETECTED – WHERE A TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED |
422 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS NOT AVAILABLE |
423 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | WILDTYPE RESULT OBTAINED – WHERE THE ABSENCE OF A VARIANT MEANS TARGETED TREATMENT IS AVAILABLE OR WHERE PROGNOSTIC/ACTIONABLE INFORMATION IS PROVIDED |
431 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION |
432 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | NO TARGET DETECTED OR TARGET DETECTED BELOW A LEVEL REQUIRING CLINICAL ACTION |
961 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED |
962 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | NO ACTIONABLE PHARMACOGENOMIC VARIANT DETECTED |
971 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | FAILURE |
981 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | ONCOGENIC/LIKELY ONCOGENIC VARIANT DETECTED IN GENE NOT ASSOCIATED WITH TUMOUR TYPE/INCIDENTAL FINDING |
991 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | OTHER (NOT LISTED) |
992 | https://nw-gmsa.github.io/CodeSystem/GenomicTestOutcomeCode | CAVEATED 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 |