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Niemann-Pick Disease - Medical Condition Information

Niemann-Pick Disease

Sphingomyelinase Deficiency
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📋Overview

Niemann-Pick disease is a group of rare inherited lysosomal storage disorders characterized by the accumulation of sphingomyelin and other lipids in various organs. It is classified mainly into types A, B, and C, with types A and B caused by acid sphingomyelinase deficiency and type C caused by impaired intracellular cholesterol trafficking. The term 'Niemann-Pick disease' is a legacy eponym encompassing these related but genetically distinct conditions, now referred to as acid sphingomyelinase deficiency (types A and B) and Niemann-Pick type C disease.

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Medical codes (for reference)

UMLS CUI: C0028064
ICD-10-CM
E75.24E75.249
MeSH
D009542
SNOMED CT (US)
58459009

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

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