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ValueSet: GenomOncology Mutation Types

Official URL: http://fhir.genomoncology.io/ValueSet/mutation-type-valueset Version: 0.2.0
Active as of 2024-12-11 Computable Name: MutationTypeValueSet

Variant Mutation Types

References

Logical Definition (CLD)

Generated Narrative: ValueSet mutation-type-valueset

 

Expansion

Generated Narrative: ValueSet

Expansion based on codesystem GenomOncology Mutation Types v0.2.0 (CodeSystem)

This value set contains 23 concepts

CodeSystemDisplay
  promoterhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemPromoter
  start-codonhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemStart Codon
  splice-acceptor-sitehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemSplice Acceptor Site
  splice-donor-sitehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemSplice Donor Site
  intronichttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemIntronic
  splice-regionhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemSplice Region
  5'UTRhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem5' UTR
  3'UTRhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem3' UTR
  substitution-coding-silenthttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemSubstitution - coding silent
  nonstop-extensionhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemNonstop extension
  substitution-nonsensehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemSubstitution - Nonsense
  substitution-missensehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemSubstitution - Missense
  deletion-in-framehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemDeletion - In frame
  insertion-in-framehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemInsertion - In frame
  complex-deletion-inframehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemComplex - deletion inframe
  complex-insertion-inframehttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemComplex - insertion inframe
  complex-compound-substitutionhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemComplex - compound substitution
  frameshifthttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemFrameshift
  amplificationhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemAmplification
  losshttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemLoss
  fusionhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemFusion
  itdhttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemITD
  exon-skippinghttp://fhir.genomoncology.io/CodeSystem/mutation-type-codesystemExon 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