| Descriptor English: | Sphingolipidoses | ||||
| Descriptor Spanish: |
Esfingolipidosis
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| Descriptor Portuguese: | Esfingolipidoses | ||||
| Descriptor French: | Sphingolipidoses | ||||
| Entry term(s): |
Sphingolipid Storage Disease Sphingolipid Storage Diseases Sphingolipidosis Storage Disease, Sphingolipid Storage Diseases, Sphingolipid |
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| Tree number(s): |
C10.228.140.163.100.435.825 C16.320.565.189.435.825 C16.320.565.398.641.803 C16.320.565.595.554.825 C18.452.132.100.435.825 C18.452.584.563.641.803 C18.452.648.189.435.825 C18.452.648.398.641.803 C18.452.648.595.554.825 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D013106 | ||||
| Scope note: | A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
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| Annotation: | general or unspecified; prefer specifics |
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| Allowable Qualifiers: |
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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| Public MeSH Note: | 1992; see SPHINGOLIPIDOSIS 1974-91 |
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| History Note: | 1992(1974) |
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| DeCS ID: | 30418 | ||||
| Unique ID: | D013106 | ||||
| NLM Classification: | WD 205.5.L5 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 1974/01/01 | ||||
| Date of Entry: | 1999/01/01 | ||||
| Revision Date: | 2006/07/05 |
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Sphingolipidoses
- Preferred
| Concept UI |
M0020298 |
| Scope note | A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. |
| Preferred term | Sphingolipidoses |
| Entry term(s) |
Sphingolipid Storage Disease Sphingolipid Storage Diseases Sphingolipidosis Storage Disease, Sphingolipid Storage Diseases, Sphingolipid |
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