Niemann-Pick disease
ICD-10 Code
E75.24
Niemann-Pick disease
Definition
A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.
Also known as lipoid histiocytosis (classical phosphatide), Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease, subacute juvenile form, sphingomyelin/cholesterol lipidosis — per MONDO