Pesquisa sobre: MFN=56947 
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Descritor Inglês:   Trisomy 13 Syndrome 
Descritor Espanhol:   síndrome de la trisomía 13 
Descritor Português:   Síndrome da Trissomia do Cromossomo 13 
Sinônimos Inglês:   Bartholin-Patau Syndrome
Chromosome 13 Duplication
Chromosome 13 Trisomy Syndrome
Complete Trisomy 13 Syndrome
Mosaic Trisomy 13 Syndrome
Patau Syndrome
Patau's Syndrome
Trisomy 13
Trisomy 13 Syndromes
Bartholin Patau Syndrome
Chromosome 13 Duplications
Duplication, Chromosome 13
Pataus Syndrome  
Categoria:   C10.597.606.643.835
C14.240.400.970
C14.280.400.970
C16.131.077.919
C16.131.240.400.965
C16.131.260.923
C16.320.180.923
Definição Inglês:   A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS. 
Nota Histórica Inglês:   2018(2010) 
Qualificadores Permitidos Inglês:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Número do Registro:   56947 
Identificador Único:   D000073839 

Ocorrência na BVS:
 
LILACS     1
MEDLINE     248

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