Visão selecionada em Inglês
| Descritor em português: | Mucolipidoses | ||||||
| Descritor em inglês: | Mucolipidoses | ||||||
| Descritor em espanhol: |
Mucolipidosis
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| 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 |
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| 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 |
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| 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) |
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| 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 |
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| Indexação Anterior: |
Lipid Metabolism, Inborn Errors (1966-1976) Lipochondrodystrophy (1966-1976) Lipoidosis (1966-1976) Mucopolysaccharidosis (1974-1976) |
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| Nota MeSH pública: | 2000 |
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| Nota histórica: | 2000(1977) |
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| 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 |
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Mucolipidoses
- Conceito preferido
Type I Mucolipidosis
- Mais específico
Type III Mucolipidosis
- Mais específico
Type IV Mucolipidosis
- Mais específico
Lipomucopolysaccharidosis
- Mais específico
Type II Mucolipidosis
- Mais específico
| 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 |
| 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 |
| 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 |
| 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 |
| Identificador do conceito |
M0014164 |
| Termo preferido | Lipomucopolysaccharidosis |
| Termo(s) alternativo(s) |
Lipomucopolysaccharidoses |
| 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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