C101222Level 5
Complete Trisomy 21 Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease.
**Synonyms:** - Down Syndrome
GET
/api/v1/systems/nci_thesaurus/nodes/C101222Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.