paprika.idref.fr paprika.idref.fr data.idref.fr data.idref.fr Documentation Documentation
Identifiant pérenne de la notice : 040696510Copier cet identifiant (PPN)
Notice de type FMeSH

Point d'accès autorisé

Syndrome de Down

Variantes de point d'accès

Syndrome, Down
[Nom commun]
Mongolism
[Nom commun]
47,XY,+21
[Nom commun]
Trisomy G
[Nom commun]
47,XX,+21
[Nom commun]
Down's Syndrome
[Nom commun]
Downs Syndrome
[Nom commun]
Syndrome, Down's
[Nom commun]
Trisomy 21
[Nom commun]
Mongolisme
[Nom commun]
Trisomie 21
[Nom commun]
Trisomy 21, Mitotic Nondisjunction
[Nom commun]
Down Syndrome, Partial Trisomy 21
[Nom commun]
Partial Trisomy 21 Down Syndrome
[Nom commun]
Trisomy 21, Meiotic Nondisjunction
[Nom commun]
Trisomie 21 par non-disjonction mitotique
[Nom commun]
Syndrome de Down avec trisomie 21 partielle
[Nom commun]
Trisomie 21 par non-disjonction méiotique
[Nom commun]
Mongolisme
[Nom commun]
Trisomie 21
[Nom commun]

Informations

Note publique d''information : 
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)

Point d'accès autorisé parallèle

Down Syndrome

Identifiants externes

Identifiant MeSH : mesD004314

Utilisation dans FMeSH

Qualificatifs autorisés : DI / PS / IM / MI / DG / PP / RH / EN / ET / MO / EP / BL / CF / CI / DH / DT / TH / PX / UR / VI / VE / HI / CL / EC / EM / GE / NU / RT / EH / PC / PA / ME / CO / SU93; was DOWN'S SYNDROME 1975-92 & 1963-64; was MONGOLISM 1965-74

... Références liées : ...