E75.244
BillableNiemann-Pick disease type A/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 A/B is a combined form of the inherited metabolic disorder showing characteristics of both type A and type B presentations with variable severity and progression.
Coding Tips
- •This code indicates overlap features of both types; ensure documentation clearly describes which characteristics are present
- •Code specific organ involvement and neurological manifestations separately based on clinical presentation
Clinical Significance
Niemann-Pick disease type A/B is an intermediate phenotype of acid sphingomyelinase deficiency showing features of both the severe neuronopathic type A and the milder non-neuronopathic type B. Patients may have some neurological involvement along with hepatosplenomegaly and lung disease. The clinical course is variable, and enzyme replacement therapy (olipudase alfa) may be applicable for the visceral manifestations.
Documentation Requirements
- ✓Confirmed diagnosis of Niemann-Pick disease type A/B or intermediate acid sphingomyelinase deficiency
- ✓Acid sphingomyelinase enzyme assay results showing intermediate deficiency
- ✓SMPD1 gene mutation analysis with documentation of variant type
- ✓Assessment of both neurological and visceral manifestations
- ✓Hepatosplenomegaly documentation with imaging
- ✓Current treatment plan and monitoring schedule
Commonly Confused Codes
E75.240 — Niemann-Pick disease type A: severe neuronopathic form with early fatalityE75.241 — Niemann-Pick disease type B: non-neuronopathic visceral formE75.242 — Niemann-Pick disease type C: different gene and enzyme pathwayE75.249 — Niemann-Pick disease, unspecified: do not use when type A/B is documentedE75.248 — Other Niemann-Pick disease: for variants not fitting standard types