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
F F F- F0 FA FB FC FD FE FF FG FH FI FJ FK FL FM FN FO FP FR FS FT FU FX FY
FA FAA FAB FAC FAD FAE FAI FAK FAL FAM FAN FAP FAR FAS FAT FAU FAV FAX

familial splenic anemia

[autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. ( CSP )]
UMLS (CSP) C0017205
 
Disease or Syndrome
Relation/PAR: Arrieration mentale
Reticuloendothelial Hyperplasia
Sphingolipidoses
enzyme deficiency

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