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Sphingolipidosis - Medical Condition Information

Sphingolipidosis

Sphingolipidosis
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📋Overview

Sphingolipidoses are a group of inherited metabolic disorders characterized by the accumulation of sphingolipids due to deficiencies in specific lysosomal enzymes. These conditions are a subset of lysosomal storage diseases and include well-known disorders such as Gaucher disease, Fabry disease, Tay-Sachs disease, and Niemann-Pick disease. The term 'sphingolipidosis' is a legacy label encompassing these related disorders, which are now classified individually based on the specific enzyme deficiency and clinical presentation.

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Medical codes (for reference)

UMLS CUI: C0037899
ICD-10-CM
E75.3
MeSH
D013106
SNOMED CT (US)
238028008

Codes are provided for reference and interoperability. They are not a diagnosis.

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