Search on: MFN=56947 
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Descriptor English:   Trisomy 13 Syndrome 
Descriptor Spanish:   síndrome de la trisomía 13 
Descriptor Portuguese:   Síndrome da Trissomia do Cromossomo 13 
Synonyms English:   Bartholin Patau Syndrome
Bartholin-Patau Syndrome
Chromosome 13 Duplication
Chromosome 13 Duplications
Chromosome 13 Trisomy Syndrome
Complete Trisomy 13 Syndrome
Duplication, Chromosome 13
Mosaic Trisomy 13 Syndrome
Patau Syndrome
Patau's Syndrome
Pataus Syndrome
Trisomy 13
Trisomy 13 Syndromes  
Tree Number:   C10.597.606.360.835
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
Definition English:   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. 
History Note English:   2018(2010) 
Allowable Qualifiers English:  
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
Record Number:   56947 
Unique Identifier:   D000073839 

Occurrence in VHL:
 

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