Niemann-Pick disease type B

This code identifies Niemann-Pick disease type B, a rare, inherited metabolic disorder characterized by the accumulation of sphingomyelin in various organs due to a deficiency of the enzyme acid sphingomyelinase. This leads to progressive organ damage, particularly affecting the lungs, liver, and spleen, but typically sparing the central nervous system.

Assign this code for patients diagnosed with Niemann-Pick disease type B, confirmed through enzymatic assays or genetic testing. It is appropriate when documentation specifies the "type B" variant, distinguishing it from other Niemann-Pick types. Use this code for both initial diagnoses and subsequent encounters for ongoing management of the condition.

• Ensure documentation clearly specifies "type B" to differentiate from other Niemann-Pick types (e.g., type A, type C).
• Code any associated manifestations or complications (e.g., hepatosplenomegaly, interstitial lung disease) in addition to this primary diagnosis.
• Do not confuse with E75.240 (Niemann-Pick disease type A) or E75.242 (Niemann-Pick disease type C).