Hurler-Scheie syndrome

This code represents Hurler-Scheie syndrome, also known as Mucopolysaccharidosis Type I (MPS I) H-S, a rare, inherited lysosomal storage disorder. It is characterized by a deficiency in the alpha-L-iduronidase enzyme, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. This results in a spectrum of clinical manifestations, including skeletal abnormalities, corneal clouding, cardiac issues, and developmental delays, typically with a milder presentation than Hurler syndrome but more severe than Scheie syndrome.

Use this code for patients diagnosed with Hurler-Scheie syndrome based on clinical findings, enzyme assay confirming alpha-L-iduronidase deficiency, and/or genetic testing. This code is appropriate for documenting the underlying genetic disorder causing the patient's multi-systemic symptoms. Documentation should clearly indicate the specific MPS I subtype as Hurler-Scheie.

• Ensure documentation specifies "Hurler-Scheie" and not just a general MPS I diagnosis, as other MPS I subtypes have different codes.
• Code all associated manifestations and complications (e.g., corneal opacity, valvular heart disease, skeletal deformities) in addition to the primary diagnosis.
• Consider genetic counseling and testing documentation to support the diagnosis, especially in initial encounters.