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MFN=56947
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DeCS
Descriptor
Inglés
:
Trisomy 13 Syndrome
Descriptor
Español
:
Síndrome de la Trisomía 13
Descriptor
Portugués
:
Síndrome da Trissomia do Cromossomo 13
Sinónimos
Inglés
:
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
Categoría:
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
Definición
Inglés
:
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
Inglés
:
2018(2010)
Calificadores Permitidos
Inglés
:
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 del Registro:
56947
Identificador Único:
D000073839
Ocurrencia en la BVS
:
Similar:
DeCS