Pesquisa
Descritor em português: Mucolipidoses
Descritor em inglês: Mucolipidoses
Descritor em espanhol: Mucolipidosis
Descritor em francês: Mucolipidoses
Termo(s) alternativo(s): Cherry Red Spot Myoclonus Syndrome
Cherry Red Spot-Myoclonus Syndrome
Deficiencies, Glycoprotein Neuraminidase
Deficiency Disease, Ganglioside Sialidase
Deficiency, Glycoprotein Neuraminidase
Ganglioside Sialidase Deficiency Disease
Glycoprotein Neuraminidase Deficiencies
Glycoprotein Neuraminidase Deficiency
I Cell Disease
I-Cell Disease
I-Cell Diseases
Inclusion Cell Disease
Inclusion Cell Diseases
Lipomucopolysaccharidoses
Lipomucopolysaccharidosis
Mucolipidoses, Type I
Mucolipidoses, Type II
Mucolipidoses, Type III
Mucolipidoses, Type IV
Mucolipidosis
Mucolipidosis I
Mucolipidosis II
Mucolipidosis III
Mucolipidosis III Alpha Beta
Mucolipidosis IIIa
Mucolipidosis IV
Mucolipidosis Type 1
Mucolipidosis Type I
Mucolipidosis Type II
Mucolipidosis Type III
Mucolipidosis Type IV
Mucolipidosis, Type I
Mucolipidosis, Type II
Mucolipidosis, Type III
Mucolipidosis, Type IV
Myoclonus Cherry Red Spot Syndrome
Myoclonus-Cherry Red Spot Syndrome
Polydystrophy, Pseudo-Hurler
Pseudo Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
Psuedo Hurler Disease
Psuedo-Hurler Disease
Psuedo-Hurler Diseases
Sialidoses
Sialidosis
Sialolipidoses
Sialolipidosis
Type I Mucolipidoses
Type I Mucolipidosis
Type II Mucolipidoses
Type II Mucolipidosis
Type III Mucolipidoses
Type III Mucolipidosis
Type IV Mucolipidoses
Type IV Mucolipidosis
Código(s) hierárquico(s): C05.116.198.371
C10.228.140.163.100.435.590
C16.320.565.189.435.590
C16.320.565.202.670
C16.320.565.595.554.590
C18.452.132.100.435.590
C18.452.648.189.435.590
C18.452.648.202.670
C18.452.648.595.554.590
Identificador Único RDF: https://id.nlm.nih.gov/mesh/D009081
Nota de escopo: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
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: Lipid Metabolism, Inborn Errors (1966-1976)
Lipochondrodystrophy (1966-1976)
Lipoidosis (1966-1976)
Mucopolysaccharidosis (1974-1976)
Nota MeSH pública: 2000
Nota histórica: 2000(1977)
Veja também os descritores: Gangliosidoses MeSH
Identificador DeCS: 9273
ID do descritor: D009081
Documentos indexados na Biblioteca Virtual em Saúde (BVS): Clique aqui para acessar os documentos da BVS
Data de estabelecimento: 01/01/1977
Data de entrada: 19/05/1976
Data de revisão: 26/02/2016
Mucolipidoses - Conceito preferido
Identificador do conceito M0014165
Nota de escopo A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Termo preferido Mucolipidoses
Termo(s) alternativo(s) Mucolipidosis
Sialidoses
Sialidosis
Type I Mucolipidosis - Mais específico
Identificador do conceito M0335702
Termo preferido Type I Mucolipidosis
Termo(s) alternativo(s) Cherry Red Spot Myoclonus Syndrome
Cherry Red Spot-Myoclonus Syndrome
Deficiencies, Glycoprotein Neuraminidase
Deficiency, Glycoprotein Neuraminidase
Glycoprotein Neuraminidase Deficiencies
Glycoprotein Neuraminidase Deficiency
Mucolipidoses, Type I
Mucolipidosis I
Mucolipidosis Type 1
Mucolipidosis Type I
Mucolipidosis, Type I
Myoclonus Cherry Red Spot Syndrome
Myoclonus-Cherry Red Spot Syndrome
Type I Mucolipidoses
Type III Mucolipidosis - Mais específico
Identificador do conceito M0335704
Termo preferido Type III Mucolipidosis
Termo(s) alternativo(s) Mucolipidoses, Type III
Mucolipidosis III
Mucolipidosis III Alpha Beta
Mucolipidosis IIIa
Mucolipidosis Type III
Mucolipidosis, Type III
Polydystrophy, Pseudo-Hurler
Pseudo Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
Psuedo Hurler Disease
Psuedo-Hurler Disease
Psuedo-Hurler Diseases
Type III Mucolipidoses
Type IV Mucolipidosis - Mais específico
Identificador do conceito M0335703
Termo preferido Type IV Mucolipidosis
Termo(s) alternativo(s) Deficiency Disease, Ganglioside Sialidase
Ganglioside Sialidase Deficiency Disease
Mucolipidoses, Type IV
Mucolipidosis IV
Mucolipidosis Type IV
Mucolipidosis, Type IV
Sialolipidoses
Sialolipidosis
Type IV Mucolipidoses
Lipomucopolysaccharidosis - Mais específico
Identificador do conceito M0014164
Termo preferido Lipomucopolysaccharidosis
Termo(s) alternativo(s) Lipomucopolysaccharidoses
Type II Mucolipidosis - Mais específico
Identificador do conceito M0014163
Termo preferido Type II Mucolipidosis
Termo(s) alternativo(s) I Cell Disease
I-Cell Disease
I-Cell Diseases
Inclusion Cell Disease
Inclusion Cell Diseases
Mucolipidoses, Type II
Mucolipidosis II
Mucolipidosis Type II
Mucolipidosis, Type II
Type II Mucolipidoses



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