Down syndrome
ICD-10 Code
Q90
Category
Congenital
Down syndrome
Definition
Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of the chromosome 21 genetic material and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.
Also known as Down syndrome, Down syndrome, Isolated cases, Down's syndrome, leukemia, megakaryoblastic, with or without Down syndrome, somatic, trisomy 21 (Down syndrome) — per MONDO