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Cytogenetic Abnormality

Go to external page http://purl.obolibrary.org/obo/NCIT_C2950

An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. [ ]

Term info

Label

Cytogenetic Abnormality

Synonyms
  • Aberrant Chromosome
  • Chromosomal Aberration
  • Chromosomal Abnormalities
  • Chromosomal Abnormality
  • Chromosomal Alterations
  • Chromosome Aberration
  • Chromosome Abnormality
  • Chromosome Alterations
  • Chromosome Anomalies
  • Cytogenetic Aberration
  • Cytogenetic Abnormality
  • Cytogenetic Analysis Abnormality Type
Subsets

NCIT_C90259, NCIT_C99147, NCIT_C158034, NCIT_C158035, NCIT_C158520, NCIT_C156953, NCIT_C156952, NCIT_C159339

Contributing Source

NICHD, CPTAC

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

Legacy Concept Name

Chromosomal_Aberration

NICHD Hierarchy Term

Chromosomal Abnormality

Preferred Name

Cytogenetic Abnormality

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C0008625

code

C2950

Term relations

Subclass of: