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hurler-scheie syndrome

Medical Definition

An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type i. it is characterized by deficiency of the enzyme alpha-l-iduronidase. signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation.
Related Codes (1)
Code
Description
Billable
Details
E76.02Hurler-Scheie syndrome

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