E75.242

Approximate Synonyms

• Niemann pick disease type c

• Niemann-pick disease, type c

Clinical Information

• An autosomal recessive inherited lysosomal storage disease caused by mutations in the npc1 and npc2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia, dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly, jaundice, and respiratory failure.

• An autosomal recessive lipid storage disorder that is characterized by accumulation of cholesterol and sphingomyelins in cells of the viscera and the central nervous system. Type c or c1) and type d are allelic disorders caused by mutation of gene npc1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type d is a variant in people with a nova scotia ancestry.

Details

• E75.242 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E75.242 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E75.242 – other international versions of ICD-10 E75.242 may differ.