[caused by deficiency of sphingomyelinase, resulting in accumulation of sphingomyelin in the reticuloendothelial system, mental and physical retardation, enlarged liver and spleen, anemia, and blindness. ( CSP )]
UMLS (CSP) C0028064 Relation/PAR: Histiocytosis, Non-Langerhans-Cell
Sphingolipidoses
enzyme deficiency