UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM
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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
I I- I0 I1 I2 I3 I4 I5 I6 I7 I8 I9 IA IB IC ID IE IF IG IH II IK IL IM IN IO IP IQ IR IS IT IU IV IX
ID ID2 IDA IDE IDI IDL IDN IDP IDU IDV
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1. iduronidase deficiency disease
[autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate; there are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V); symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. ( CSP )] (UMLS (CSP) C0023786) =Disease or Syndrome =Collagen Diseases;
Mucopolysaccharidoses;
enzyme deficiency;

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