Chronic visceral acid sphingomyelinase deficiency

Orpha code: 77293OMIM code: 607616

Definition

A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.

Disease data
Classification

Disease

Synonyms
Chronic visceral ASMD
Przewlekły niedobór kwaśnej sfingomielinazy trzewnej
NPD-B
Niemann-Pick disease type B
ORPHA code
77293
OMIM code
607616
ICD10 code
E75.2
ICD11 code
5C56.0Y

No additional description.

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