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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
%
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
C C- C1 C3 C5 C6 C7 CA CB CC CD CE CF CG CH CI CJ CK CL CM CN CO CP CQ CR CS CT CU CV CW CX CY CZ
CE CEA CEB CEC CED CEE CEF CEL CEM CEN CEP CER CES CET CEV

cerebrotendinous xanthomatosis

[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; 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. ( CSP )]
UMLS (CSP) C0238052
 
Disease or Syndrome
Relation/PAR: Lipid Metabolism, Inborn Errors
inborn lipid storage disorder
xanthelasmatosis
myelinopathy

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