Preferred Label : cerebrotendinous xanthomatosis;
Definition : A lipid storage disease, inherited as an autosomal recessive trait, characterized
by xanthomas of the tendons, the white matter of the brain, and the lungs, and by
spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts,
and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol
and defective bile synthesis, with the deposition of cholestanol in the central nervous
system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol.
(Dorland, 28th ed) [MeSH];
UMLS CUI (RADLEX) : C0238052;
Origin ID : RID5130;
UMLS CUI : C0238052;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
A lipid storage disease, inherited as an autosomal recessive trait, characterized
by xanthomas of the tendons, the white matter of the brain, and the lungs, and by
spasticity, ataxia, pyramidal paresis, mental retardation, dementia, early cataracts,
and atherosclerosis. It is associated with elevated plasma and tissue levels of cholestanol
and defective bile synthesis, with the deposition of cholestanol in the central nervous
system and myelin of peripheral nerves. The lesions contain cholesterol and dehydrocholesterol.
(Dorland, 28th ed) [MeSH]
