Terminology Service for NFDI4Health
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Trisomy

Go to external page http://purl.obolibrary.org/obo/NCIT_C3421

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. [ ]

Term info

Label

Trisomy

Synonyms
  • Trisomy
  • trisomy
ALT DEFINITION

The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or Down syndrome).

Preferred Name

Trisomy

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C0041107

code

C3421

Term relations

Subclass of: