ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD40 — Complete trisomies of the autosomes
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:
- Chromosomal disorders affecting the skin #16044
- 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)