E76.03

HCC Category Mapping

What This Code Means

Scheie's syndrome is a rare inherited metabolic disorder where the body cannot properly break down certain complex sugars, leading to progressive organ damage and skeletal abnormalities.

Coding Tips

• •Scheie's syndrome is a specific form of mucopolysaccharidosis type I; do not use the unspecified MPS I code if this diagnosis is documented
• •Document any associated complications such as cardiac valve disease, corneal clouding, or skeletal deformities for complete coding

Clinical Significance

Scheie syndrome (MPS I-S) is the mildest form of mucopolysaccharidosis type I, characterized by normal intelligence, joint stiffness, corneal clouding, and aortic valve disease with near-normal lifespan. Though milder than Hurler, it still requires ongoing specialist monitoring and often enzyme replacement therapy to prevent progressive joint and cardiac complications.

Documentation Requirements

• ✓Specific documentation of Scheie syndrome (MPS I-S) as the mild MPS I phenotype
• ✓Confirmatory enzyme assay showing alpha-L-iduronidase deficiency or IDUA gene mutation
• ✓Current clinical manifestations: joint contractures, corneal clouding, cardiac valve disease, carpal tunnel syndrome
• ✓Cognitive function assessment confirming normal intelligence (distinguishes from Hurler)
• ✓Treatment plan including enzyme replacement therapy and symptom management

Commonly Confused Codes