E75.243

Billable

Niemann-Pick disease type D

HCC Category Mapping

V24HCC 23 — Other Significant Endocrine and Metabolic Disorders

0.230

ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders

0.000

RxHCCHCC 41 — Lysosomal Storage Disorders

0.000

What This Code Means

Niemann-Pick disease type D is a rare inherited metabolic disorder where the body cannot properly break down and process certain fatty substances, causing them to accumulate in organs like the liver, spleen, and brain. This leads to progressive neurological problems and organ damage over time.

Coding Tips

•Niemann-Pick disease type D is a specific subtype of sphingolipidosis; ensure you are coding the correct type (D) and not confusing it with types A, B, or C, which have different codes
•This is a genetic disorder that typically requires documentation of family history and genetic testing results; link this code to any related complications such as hepatosplenomegaly, neurological manifestations, or developmental delays

Clinical Significance

Niemann-Pick disease type D was originally described as a distinct form found predominantly in Nova Scotia Acadian populations but is now recognized as a variant of Niemann-Pick type C caused by a specific NPC1 founder mutation. It presents with progressive neurological decline similar to type C. This code remains in use for patients with this specific genetic background and clinical presentation.

Documentation Requirements

✓Confirmed diagnosis of Niemann-Pick disease type D
✓Genetic testing showing the specific NPC1 founder mutation associated with type D
✓Documentation of Nova Scotia Acadian ancestry if relevant
✓Neurological assessment documenting progressive decline
✓Liver and spleen assessment
✓Current treatment plan and disease management strategy

Commonly Confused Codes

E75.242 — Niemann-Pick disease type C: type D is now considered a variant of type C E75.240 — Niemann-Pick disease type A: different enzyme pathway (acid sphingomyelinase)E75.241 — Niemann-Pick disease type B: different enzyme pathway E75.249 — Niemann-Pick disease, unspecified: do not use when type D is confirmed E75.248 — Other Niemann-Pick disease: for atypical presentations not fitting types A-D

Code Hierarchy

└E75Disorders of sphingolipid metabolism and other lipid storage disorders └E75.2Other sphingolipidosis └E75.24Niemann-Pick disease └E75.243Niemann-Pick disease type D

└E75.243Niemann-Pick disease type D