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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

cerebral pseudosclerosis

[rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years. ( CSP )]
UMLS (CSP) C0019202
 
Disease or Syndrome
Relation/PAR: Amino Acid Metabolism, Inborn Errors
basal ganglia disease
Disorder of eye, unspecified
Hepatic Disorder
inborn metal metabolism disorder
movement disorder
Heredodegenerative Disorders, Nervous System
Brain Diseases, Metabolic, Inborn
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