0.2.0 - ci-build
GO_FHIR - Local Development build (v0.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Official URL: http://fhir.genomoncology.io/ValueSet/mutation-type-valueset | Version: 0.2.0 | |||
| Active as of 2026-10-08 | Computable Name: MutationTypeValueSet | |||
Variant Mutation Types
References
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem version 📦0.2.0
Expansion performed internally based on codesystem GenomOncology Mutation Types v0.2.0 (CodeSystem)
This value set contains 23 concepts
| System | Code | Display (en) | JSON | XML |
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | promoter | Promoter | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | start-codon | Start Codon | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | splice-acceptor-site | Splice Acceptor Site | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | splice-donor-site | Splice Donor Site | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | intronic | Intronic | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | splice-region | Splice Region | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | 5'UTR | 5' UTR | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | 3'UTR | 3' UTR | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | substitution-coding-silent | Substitution - coding silent | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | nonstop-extension | Nonstop extension | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | substitution-nonsense | Substitution - Nonsense | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | substitution-missense | Substitution - Missense | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | deletion-in-frame | Deletion - In frame | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | insertion-in-frame | Insertion - In frame | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | complex-deletion-inframe | Complex - deletion inframe | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | complex-insertion-inframe | Complex - insertion inframe | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | complex-compound-substitution | Complex - compound substitution | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | frameshift | Frameshift | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | amplification | Amplification | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | loss | Loss | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | fusion | Fusion | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | itd | ITD | ||
http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem | exon-skipping | Exon Skipping |
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 |