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PREFERRED TERM
Down Syndrome  
ENTRY TERMS
  • 47,XX,+21
  • 47,XY,+21
  • Down's Syndrome
  • Downs Syndrome
  • Mongolism
  • Syndrome, Down's
  • Trisomy 21
  • Trisomy G
SCOPE NOTE
  • A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
HISTORY NOTE
  • 93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74
IN OTHER LANGUAGES
Downin oireyhtymä

Finnish

Down
Downin syndrooma
määrittämätön Downin oireyhtymä
syndroma Down
21-trisomia
mongoloidi
mongoloismi
mongoloidismi
syndroma Down non specificatum
Syndroma Down

Latin (Finland)

Downs syndrom

Swedish

URI
http://www.yso.fi/onto/mesh/D004314
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