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| Descriptor en español: |
Mucolipidosis
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| Descriptor en inglés: | Mucolipidoses | ||||||
| Descriptor en portugués: | Mucolipidoses | ||||||
| Descriptor en francés: | Mucolipidoses | ||||||
| Término(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) jeráquico(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 alcance: | 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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| Calificadores 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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| Indexación anterior: |
Lipid Metabolism, Inborn Errors (1966-1976) Lipochondrodystrophy (1966-1976) Lipoidosis (1966-1976) Mucopolysaccharidosis (1974-1976) |
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| Nota Pública de MeSH: | 2000 |
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| Nota de historia: | 2000(1977) |
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| Vea también los descriptores: |
Gangliosidoses
MeSH | ||||||
| Identificador de DeCS: | 9273 | ||||||
| ID del Descriptor: | D009081 | ||||||
| Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||||
| Fecha de establecimiento: | 01/01/1977 | ||||||
| Fecha de entrada: | 19/05/1976 | ||||||
| Fecha de revisión: | 26/02/2016 |
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Mucolipidoses
- Concepto preferido
Type I Mucolipidosis
- Más estrecho
Type III Mucolipidosis
- Más estrecho
Type IV Mucolipidosis
- Más estrecho
Lipomucopolysaccharidosis
- Más estrecho
Type II Mucolipidosis
- Más estrecho
| UI del concepto |
M0014165 |
| Nota de alcance | 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) |
| Término preferido | Mucolipidoses |
| Término(s) alternativo(s) |
Mucolipidosis Sialidoses Sialidosis |
| UI del concepto |
M0335702 |
| Término preferido | Type I Mucolipidosis |
| Término(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 |
| UI del concepto |
M0335704 |
| Término preferido | Type III Mucolipidosis |
| Término(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 |
| UI del concepto |
M0335703 |
| Término preferido | Type IV Mucolipidosis |
| Término(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 |
| UI del concepto |
M0014164 |
| Término preferido | Lipomucopolysaccharidosis |
| Término(s) alternativo(s) |
Lipomucopolysaccharidoses |
| UI del concepto |
M0014163 |
| Término preferido | Type II Mucolipidosis |
| Término(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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