ICD-11 classes
14 Diseases of the skin
Genetic and developmental disorders affecting the skin
Chromosomal disorders affecting the skin
LD40.0 — Complete trisomy 21
ICD-11 LD40.0 — Complete trisomy 21
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.
It includes 1 item.
- Down syndrome
The diagnosis excludes nothing.
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Complete trisomies of the autosomes #23477
- Conditions with disorders of intellectual development as a relevant clinical feature #23735
The diagnosis is included in 1 another class.
- Keratoconus in Down syndrome (9A78.50)