E75.242
BillableNiemann-Pick disease type C
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 C is an inherited metabolic disorder affecting cholesterol transport in cells, causing progressive neurological decline, organ enlargement, and variable age of onset ranging from infancy to adulthood.
Coding Tips
- •Type C has variable presentation; document age of symptom onset and primary manifestations (neurological vs. visceral)
- •Code associated neurological symptoms such as ataxia, vertical supranuclear gaze palsy, or cognitive decline separately
Clinical Significance
Niemann-Pick disease type C is a cholesterol trafficking disorder caused by NPC1 or NPC2 gene mutations, distinct from acid sphingomyelinase deficiency types A and B. It causes progressive neurological decline with vertical supranuclear gaze palsy, ataxia, dystonia, and cognitive deterioration. Age of onset ranges from perinatal to adult, making diagnosis challenging. Miglustat is approved for treatment of neurological manifestations.
Documentation Requirements
- ✓Confirmed diagnosis of Niemann-Pick disease type C
- ✓Filipin staining of cultured fibroblasts or oxysterol biomarker testing
- ✓NPC1 or NPC2 gene mutation analysis
- ✓Neurological assessment documenting vertical supranuclear gaze palsy, ataxia, dysarthria, and cognitive status
- ✓Age of onset and rate of neurological progression
- ✓Current treatment with miglustat and response to therapy
Commonly Confused Codes
E75.240 — Niemann-Pick disease type A: different enzyme deficiency (acid sphingomyelinase)E75.241 — Niemann-Pick disease type B: also acid sphingomyelinase deficiency, not NPCE75.243 — Niemann-Pick disease type D: now considered a variant of type C in some classificationsE75.249 — Niemann-Pick disease, unspecified: do not use when type C is confirmedG11.1 — Early-onset cerebellar ataxia: ataxia is a symptom of NPC, not the primary diagnosis