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Niemann-Pick disease type C

^ http://www.orpha.net/ORDO/Orphanet_646


Niemann-Pick disease type C (NP-C) is a lysosomal lipid storage disease (see this term) characterized by variable clinical signs, depending on the age of onset, such as prolonged unexplained neonatal jaundice or cholestasis, isolated unexplained splenomegaly, and progressive, often severe neurological symptoms such as cognitive decline, cerebellar ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.

Term info

database cross reference
  • MeSH:D052556 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.2 (NTBT (narrower term maps to a broader term))
  • OMIM:607625 (BTNT (broader term maps to a narrower term))
  • UMLS:C0220756 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:257220 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E75.2 (Inclusion term (The term is included under a ICD10 category and has not its own code))
hasDbXref

OMIM:607625, UMLS:C0220756, OMIM:257220, MeSH:D052556, ICD-10:E75.2

notation

ORPHA:646

Term relations

Subclass of: