E75.240
BillableNiemann-Pick disease type A
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 is a severe inherited metabolic disorder where the body cannot break down cholesterol and other fatty substances, causing rapid neurological deterioration, organ enlargement, and typically fatal outcomes in early childhood.
Coding Tips
- •Type A is the most severe form with early neurological involvement; ensure accurate type specification in documentation
- •Code associated complications such as hepatosplenomegaly, developmental regression, or seizures separately
Clinical Significance
Niemann-Pick disease type A is the most severe form of acid sphingomyelinase deficiency, causing massive sphingomyelin accumulation in the brain and visceral organs. Infants develop hepatosplenomegaly, failure to thrive, progressive neurological deterioration, and cherry-red macular spots. The disease is uniformly fatal by age 3. There is currently no disease-modifying treatment, making accurate coding important for palliative care resource allocation.
Documentation Requirements
- ✓Confirmed diagnosis of Niemann-Pick disease type A
- ✓Acid sphingomyelinase enzyme assay showing severe deficiency
- ✓SMPD1 gene mutation analysis confirming type A mutations
- ✓Documentation of hepatosplenomegaly on exam or imaging
- ✓Neurological assessment documenting developmental regression
- ✓Ophthalmologic findings including cherry-red macular spot if present
Commonly Confused Codes
E75.241 — Niemann-Pick disease type B: visceral involvement without severe neurological diseaseE75.244 — Niemann-Pick disease type A/B: intermediate phenotype with features of bothE75.242 — Niemann-Pick disease type C: different gene and enzyme (NPC1/NPC2), not sphingomyelinaseE75.249 — Niemann-Pick disease, unspecified: do not use when type A is confirmedE75.02 — Tay-Sachs disease: also has cherry-red spot but different enzyme deficiency