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scheie syndrome

Medical Definition

An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type i. it is characterized by deficiency of the enzyme alpha-l-iduronidase. signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism.
Related Codes (1)
Code
Description
Billable
Details
E76.03Scheie's syndrome

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