LD40.0 Complete trisomy 21

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

inclusions

• Down syndrome

code elsewhere

• Keratoconus in Down syndrome  (9A78.50)

postcoordination

synonyms

• Complete trisomy 21
• Down syndrome
• Chromosome 21 trisomy
• Trisomy 21 syndrome
• Trisomy 21 NOS
• 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
• trisomy 21 - translocation
• translocation down syndrome
• trisomy syndrome, 21, translocation

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