" /> Complete trisomy 21 - CISMeF





ICD-11 code : LD40.0;

Preferred Label : Complete trisomy 21;

ICD-11 definition : 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.;

ICD-11 synonym : Trisomy 21 NOS; Chromosome 21 trisomy; Trisomy 21 syndrome; abnormal autosomes 21; Down syndrome;

ICD-11 inclusion : Down syndrome;

Détails


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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.

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30/07/2025


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