Scheie's syndrome

This code represents Scheie's syndrome, a rare, attenuated form of mucopolysaccharidosis type I (MPS I). It is characterized by a deficiency of the alpha-L-iduronidase enzyme, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues. Clinical manifestations typically include corneal clouding, carpal tunnel syndrome, joint stiffness, and aortic valve disease, with generally normal intelligence and a later onset of symptoms compared to more severe MPS I subtypes.

Use this code when documentation explicitly states a diagnosis of Scheie's syndrome. This diagnosis is typically made based on clinical presentation, enzyme assays confirming alpha-L-iduronidase deficiency, and genetic testing. It is appropriate for patients with the milder, attenuated phenotype of MPS I.

• Differentiate carefully from Hurler syndrome (E76.01) and Hurler-Scheie syndrome (E76.02), which represent more severe or intermediate forms of MPS I.
• Ensure supporting documentation clearly specifies "Scheie's syndrome" or "MPS I, Scheie type" to avoid miscoding.
• Code any associated manifestations, such as corneal opacities (H18.4x), carpal tunnel syndrome (G56.0x), or specific cardiac valve disorders (I35.x, I36.x), as secondary diagnoses.