Pesquisa
Descritor em português: Síndromes Miastênicas Congênitas
Descritor em inglês: Myasthenic Syndromes, Congenital
Descritor em espanhol: Síndromes Miasténicos Congénitos
Descritor síndromes miasténicos congénitos
Termo(s) alternativo(s) miastenia congénita
miastenia gravis congénita
síndrome miasténico congénito
síndrome miasténico congénito de canal lento
síndrome miasténico congénito del canal lento
síndrome miasténico congénito postsináptico
síndrome miasténico congénito presináptico
síndromes miasténicos congénitos de canales lentos
síndromes miasténicos congénitos postsinápticos
síndromes miasténicos congénitos presinápticos
Nota de escopo: Grupo heterogéneo de trastornos que se caracterizan por un defecto congénito de la transmisión neuromuscular en la UNIÓN NEUROMUSCULAR. Incluye trastornos presinápticos, sinápticos, y postsinápticos (que no son de origen autoimmune). La mayoría de estas enfermedades son producidos por mutaciones de varias subunidades del receptor nicotínico de la acetilcolina (RECEPTORES NICOTÍNICOS) en la superficie postsinaptica de la unión. (Arch Neurol 1999 Feb;56(2):163-7)
Descritor em francês: Syndromes myasthéniques congénitaux
Termo(s) alternativo(s): Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenias
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Presynaptic
Congenital Slow Channel Myasthenic Syndrome
Congenital Slow Channel Myasthenic Syndromes
Congenital Slow-Channel Myasthenic Syndrome
Congenital Slow-Channel Myasthenic Syndromes
Gravi, Congenital Myasthenia
Myasthenia Gravis, Congenital
Myasthenia, Congenital
Myasthenias, Congenital
Myasthenic Syndrome, Congenital
Myasthenic Syndrome, Congenital, Slow-Channel
Myasthenic Syndromes, Congenital, Slow Channel
Postsynaptic Congenital Myasthenic Syndrome
Postsynaptic Congenital Myasthenic Syndromes
Presynaptic Congenital Myasthenic Syndrome
Presynaptic Congenital Myasthenic Syndromes
Slow Channel Congenital Myasthenic Syndrome
Slow Channel Congenital Myasthenic Syndromes
Slow-Channel Congenital Myasthenic Syndrome
Slow-Channel Congenital Myasthenic Syndromes
Syndrome, Congenital Myasthenic
Syndromes, Congenital Myasthenic
Código(s) hierárquico(s): C10.668.758.800
C16.320.590
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D020294
Nota de escopo: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Nota de indexação: do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers
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
Indexação Anterior: Myasthenia Gravis/congenital (1970-1999)
Nota MeSH pública: 2000
Nota histórica: 2000
Versão alternativa: MYASTHENIC SYNDROMES CONGEN
Veja também os descritores: Myasthenia Gravis MeSH
Identificador DeCS: 34336
ID do descritor: D020294
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/2000
Data de entrada: 08/11/1999
Data de revisão: 27/05/2020
Myasthenic Syndromes, Congenital - Conceito preferido
Identificador do conceito M0328231
Nota de escopo A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Termo preferido Myasthenic Syndromes, Congenital
Termo(s) alternativo(s) Congenital Myasthenia
Congenital Myasthenia Gravis
Congenital Myasthenias
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndromes
Gravi, Congenital Myasthenia
Myasthenia Gravis, Congenital
Myasthenia, Congenital
Myasthenias, Congenital
Myasthenic Syndrome, Congenital
Syndrome, Congenital Myasthenic
Syndromes, Congenital Myasthenic
Myasthenic Syndromes, Congenital, Slow Channel - Mais específico
Identificador do conceito M0337366
Termo preferido Myasthenic Syndromes, Congenital, Slow Channel
Termo(s) alternativo(s) Congenital Slow Channel Myasthenic Syndrome
Congenital Slow Channel Myasthenic Syndromes
Congenital Slow-Channel Myasthenic Syndrome
Congenital Slow-Channel Myasthenic Syndromes
Myasthenic Syndrome, Congenital, Slow-Channel
Slow Channel Congenital Myasthenic Syndrome
Slow Channel Congenital Myasthenic Syndromes
Slow-Channel Congenital Myasthenic Syndrome
Slow-Channel Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Presynaptic - Mais específico
Identificador do conceito M0337368
Termo preferido Congenital Myasthenic Syndromes, Presynaptic
Termo(s) alternativo(s) Presynaptic Congenital Myasthenic Syndrome
Presynaptic Congenital Myasthenic Syndromes
Congenital Myasthenic Syndromes, Postsynaptic - Mais específico
Identificador do conceito M0337367
Termo preferido Congenital Myasthenic Syndromes, Postsynaptic
Termo(s) alternativo(s) Postsynaptic Congenital Myasthenic Syndrome
Postsynaptic Congenital Myasthenic Syndromes



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