E75.241
BillableNiemann-Pick disease type B
HCC Category Mapping
V24HCC 23 — Other Significant Endocrine and Metabolic Disorders
0.230ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders
0.000RxHCCHCC 41 — Lysosomal Storage Disorders
0.000What This Code Means
Niemann-Pick disease type B is an inherited metabolic disorder where the body cannot break down cholesterol and fatty substances, causing organ enlargement and some neurological problems, but with slower progression and longer survival than type A.
Coding Tips
- •Type B has visceral involvement without severe neurological manifestations; document presence or absence of neurological symptoms
- •Code organ-specific complications such as hepatosplenomegaly, lung disease, or bone involvement separately
Clinical Significance
Niemann-Pick disease type B is caused by partial acid sphingomyelinase deficiency, resulting in visceral sphingomyelin accumulation without significant neurological involvement. Patients develop hepatosplenomegaly, interstitial lung disease, thrombocytopenia, and dyslipidemia, with survival into adulthood. Olipudase alfa (enzyme replacement therapy) is now available. Accurate coding supports proper risk adjustment for these patients' ongoing multi-organ management.
Documentation Requirements
- ✓Confirmed diagnosis of Niemann-Pick disease type B
- ✓Acid sphingomyelinase enzyme assay showing partial deficiency
- ✓SMPD1 gene mutation analysis confirming type B mutations
- ✓Hepatosplenomegaly assessment with imaging
- ✓Pulmonary function testing and chest imaging for interstitial lung disease
- ✓Complete blood count documenting thrombocytopenia
- ✓Lipid panel and treatment status including enzyme replacement therapy
Commonly Confused Codes
E75.240 — Niemann-Pick disease type A: severe neuronopathic form, usually fatal in infancyE75.244 — Niemann-Pick disease type A/B: intermediate phenotypeE75.242 — Niemann-Pick disease type C: different enzyme pathway entirelyE75.249 — Niemann-Pick disease, unspecified: do not use when type B is confirmedE75.22 — Gaucher disease: also causes hepatosplenomegaly but different enzyme