Inversion Mutation Abnormality

Preferred Label : Inversion Mutation Abnormality;

NCIt synonyms : Inversion Mutation; inv;

NCIt related terms : Inversion; Inversion NOS;

NCIt definition : A structural change in genomic DNA where the 5' to 3' order of a nucleotide sequence is completely reversed to the 3' to 5' order relative to its adjacent sequences. This inversion is termed either pericentric, if it includes the centromere of a chromosome, or pancentric, if it excludes the centromere. An inversion mutation abnormality may be heritable or occur somatically.;

Details

Origin ID

C45589;

UMLS CUI

C1705687;

Automatic exact mappings (from CISMeF team)
- Inverse (qualifier value) [SNOMED CT concept]
False automatic mappings
- Inversion (morphologic abnormality) [SNOMED CT concept]
- inversion [IUPAC Term]
- inversion [SNOMED Notion]
See also inter- (CISMeF)
- Inversions [LOINC Class]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- ALL Authorized Value Terminology [NCIt concept]
- ALL Molecular Analysis Table [NCIt concept]
- AML Authorized Value Terminology [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- EWS Authorized Value Terminology [NCIt concept]
- EWS Molecular Analysis Table [NCIt concept]
- GCT Authorized Value Terminology [NCIt concept]
- GCT Molecular Analysis Table [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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