Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
📋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.
Sections:
Additional Resources
Medical codes (for reference)
UMLS CUI: C0037899ICD-10-CM
E75.3
MeSH
D013106
SNOMED CT (US)
238028008
Codes are provided for reference and interoperability. They are not a diagnosis.
Found an Error?
Help us keep this information accurate. If you notice any incorrect details, please submit a correction request.