Preferred Label : Complete Trisomy 21 Syndrome;
NCIt related terms : Down Syndrome;
NCIt 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.;
Alternative definition : NICHD: A chromosomal dysgenesis syndrome resulting from a triplication or translocation
of chromosome 21. This condition is characterized by distinctive facial and physical
features: short stature, developmental delay, cardiac defects (atrioventricular septal
defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type
1 diabetes mellitus), and hypogonadism.;
NCI Metathesaurus CUI : CL435606;
Origin ID : C101222;
UMLS CUI : C4521042;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
concept_is_in_subset
disease_has_molecular_abnormality
disease_mapped_to_chromosome