Niemann-Pick disease type A

This code represents Niemann-Pick disease type A, a severe, inherited metabolic disorder characterized by the accumulation of sphingomyelin in lysosomes due to a deficiency of the acid sphingomyelinase enzyme. It primarily affects infants and young children, leading to neurodegeneration, hepatosplenomegaly, and progressive organ damage.

Use this code for a confirmed diagnosis of Niemann-Pick disease type A, typically identified through enzyme assays and genetic testing. This diagnosis is often supported by clinical findings such as failure to thrive, developmental regression, hepatosplenomegaly, and a cherry-red spot on ophthalmologic examination in an infant.

• Ensure documentation specifies "type A" as there are other Niemann-Pick types with different codes.
• Code any associated manifestations, such as hepatosplenomegaly (R16.0, R16.1), developmental delays (F88), or failure to thrive (R62.51), as secondary diagnoses.
• Genetic testing results confirming the specific mutation are strong supporting documentation for this diagnosis.