mutation-type-codesystem
type: CodeSystem
node role: treeRoot
id:
  v: mutation-type-codesystem
text:
  status:
    v: generated
  div: Generated Narrative: CodeSystem mutation-type-codesystem This code system http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem defines the following codes: Code Display promoter Promoter start-codon Start Codon splice-acceptor-site Splice Acceptor Site splice-donor-site Splice Donor Site intronic Intronic splice-region Splice Region 5'UTR 5' UTR 3'UTR 3' UTR substitution-coding-silent Substitution - coding silent nonstop-extension Nonstop extension substitution-nonsense Substitution - Nonsense substitution-missense Substitution - Missense deletion-in-frame Deletion - In frame insertion-in-frame Insertion - In frame complex-deletion-inframe Complex - deletion inframe complex-insertion-inframe Complex - insertion inframe complex-compound-substitution Complex - compound substitution frameshift Frameshift amplification Amplification loss Loss fusion Fusion itd ITD exon-skipping Exon Skipping
url:
  v: http://fhir.genomoncology.io/CodeSystem/mutation-type-codesystem
version:
  v: 0.2.0
name:
  v: MutationType
title:
  v: GenomOncology Mutation Types
status:
  v: active
date:
  v: 2024-12-11T19:26:03+00:00
publisher:
  v: GenomOncology
contact:
  name:
    v: GenomOncology
  telecom:
    system:
      v: url
    value:
      v: http://genomoncology.com
description:
  v: Mutation types for variants defined by GenomOncology.
content:
  v: complete
count:
  v: 23
concept:
  code:
    v: promoter
  display:
    v: Promoter
concept:
  code:
    v: start-codon
  display:
    v: Start Codon
concept:
  code:
    v: splice-acceptor-site
  display:
    v: Splice Acceptor Site
concept:
  code:
    v: splice-donor-site
  display:
    v: Splice Donor Site
concept:
  code:
    v: intronic
  display:
    v: Intronic
concept:
  code:
    v: splice-region
  display:
    v: Splice Region
concept:
  code:
    v: 5'UTR
  display:
    v: 5' UTR
concept:
  code:
    v: 3'UTR
  display:
    v: 3' UTR
concept:
  code:
    v: substitution-coding-silent
  display:
    v: Substitution - coding silent
concept:
  code:
    v: nonstop-extension
  display:
    v: Nonstop extension
concept:
  code:
    v: substitution-nonsense
  display:
    v: Substitution - Nonsense
concept:
  code:
    v: substitution-missense
  display:
    v: Substitution - Missense
concept:
  code:
    v: deletion-in-frame
  display:
    v: Deletion - In frame
concept:
  code:
    v: insertion-in-frame
  display:
    v: Insertion - In frame
concept:
  code:
    v: complex-deletion-inframe
  display:
    v: Complex - deletion inframe
concept:
  code:
    v: complex-insertion-inframe
  display:
    v: Complex - insertion inframe
concept:
  code:
    v: complex-compound-substitution
  display:
    v: Complex - compound substitution
concept:
  code:
    v: frameshift
  display:
    v: Frameshift
concept:
  code:
    v: amplification
  display:
    v: Amplification
concept:
  code:
    v: loss
  display:
    v: Loss
concept:
  code:
    v: fusion
  display:
    v: Fusion
concept:
  code:
    v: itd
  display:
    v: ITD
concept:
  code:
    v: exon-skipping
  display:
    v: Exon Skipping