Complete trisomy 21

Description

Trisomy 21 is a chromosomal abnormality, characterised by the presence of a third (partial or total) copy of chromosome 21, which clinical manifestations include variable intellectual deficiency, muscular hypotonia and joint laxity, often associated with facial dysmorphism and variable malformations (essentially heart and digestive) and a risk of complications (epilepsy, leukemia, auto-immune and endocrine pathologies, earlier aging and Alzheimer disease.

Index terms

Complete trisomy 21
Chromosome 21 trisomy
Down syndrome

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Trisomy 21 NOS
Trisomy 21 syndrome
abnormal autosomes 21
Complete trisomy 21, meiotic non-disjunction
trisomy 21- meiotic nondisjunction
trisomy; syndrome, 21, meiotic nondisjunction
Complete trisomy 21, translocation
chromosome; 21, trisomy, translocation
translocation down syndrome
trisomy 21 - translocation
trisomy syndrome, 21, translocation

Inclusions

Down syndrome

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD40.1 – Complete trisomy 13
LD40.2 – Complete trisomy 18
LD40.Y – Other specified complete trisomies of the autosomes
LD40.Z – Complete trisomies of the autosomes, unspecified

Foundation entity

Complete trisomy 21 – http://id.who.int/icd/entity/1624623908

Allowed postcoordination axes

hasManifestation

Part of: LD40: Complete trisomies of the autosomes › 20: Developmental anomalies