Niemann-Pick disease type D

This code identifies Niemann-Pick disease type D, a rare, inherited lysosomal storage disorder characterized by the accumulation of sphingomyelin and cholesterol within cells. It primarily affects the brain, liver, and spleen, leading to progressive neurological deterioration, hepatosplenomegaly, and other systemic manifestations.

Use this code for patients definitively diagnosed with Niemann-Pick disease type D based on genetic testing, enzyme assays, or characteristic clinical findings. Documentation should clearly specify the Niemann-Pick type as "D" to support its use. This code is appropriate for initial diagnosis and subsequent encounters for disease management.

• Ensure documentation specifies "type D" to differentiate from other Niemann-Pick types.
• Do not confuse with Niemann-Pick type C (E75.242), which has distinct genetic and clinical features.
• Code any associated neurological, hepatic, or splenic manifestations separately as secondary diagnoses.