DeCS

Descritor em português:

Síndrome da Trissomía do Cromossomo 18

Descritor em inglês:

Trisomy 18 Syndrome

Descritor em espanhol:

Síndrome de la Trisomía 18

Espanhol da Espanha

Descritor	síndrome de la trisomía 18
Termo(s) alternativo(s)	síndrome de Edwards síndrome de la trisomia E síndrome de la trisomía completa 18 síndrome de trisomía en mosaico del cromosoma 18 trisomía del 18
Nota de escopo:	Trastorno cromosómico asociado a una TRISOMÍA total o parcial del CROMOSOMA 18. Entre sus manifestaciones clínicas cabe incluir: el RETARDO DEL CRECIMIENTO INTRAUTERINO, la FISURA DEL PALADAR, las CARDIOPATÍAS CONGÉNITAS, la MICROCEFALIA, la MICROGNATIA y los puños cerrados con dedos superpuestos. La mayoría de los fetos afectados no sobreviven hasta el nacimiento. Los que sobreviven durante su primer año tienen una DISCAPACIDAD INTELECTUAL grave.

Descritor em francês:

Syndrome d'Edwards

Termo(s) alternativo(s):

Complete Trisomy 18 Syndrome
Edwards Syndrome
Mosaic Trisomy 18 Syndrome
Trisomy 18
Trisomy 18 Syndromes
Trisomy E Syndrome

Código(s) hierárquico(s):

C14.240.400.975
C14.280.400.975
C16.131.077.929
C16.131.240.400.968
C16.131.260.932
C16.320.180.932

Identificador Único RDF:

https://id.nlm.nih.gov/mesh/D000073842

Nota de escopo:

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.

Qualificadores permitidos:

BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology

Identificador do conceito	M000624074
Nota de escopo	A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.
Termo preferido	Trisomy 18 Syndrome
Termo(s) alternativo(s)	Trisomy 18 Syndromes

Identificador do conceito	M000642293
Termo preferido	Trisomy E Syndrome

Identificador do conceito	M000641927
Termo preferido	Complete Trisomy 18 Syndrome
Termo(s) alternativo(s)	Edwards Syndrome

Identificador do conceito	M0583946
Termo preferido	Trisomy 18

Identificador do conceito	M000624083
Termo preferido	Mosaic Trisomy 18 Syndrome

Queremos a sua opinião sobre o novo sitio web do DeCS/MeSH

Convidamos-lhe a responder a uma pesquisa que não levará mais que 3 minutos