Hurler's syndrome

This code represents Hurler's syndrome, also known as Mucopolysaccharidosis Type I H (MPS I H), a severe, autosomal recessive lysosomal storage disorder. It results from a deficiency of the alpha-L-iduronidase enzyme, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. This accumulation causes progressive multi-systemic damage, including skeletal deformities, organomegaly, developmental delay, and distinctive facial features.

Use this code for patients definitively diagnosed with Hurler's syndrome based on clinical presentation, enzyme assay confirming alpha-L-iduronidase deficiency, and/or genetic testing identifying pathogenic variants in the IDUA gene. This code is appropriate for initial diagnosis, ongoing management, and complications directly attributable to Hurler's syndrome. Documentation should clearly state the diagnosis of Hurler's syndrome.

• Differentiate from other MPS I subtypes (Scheie and Hurler-Scheie) which have distinct ICD-10-CM codes.
• Code all associated manifestations and complications (e.g., cardiomyopathy, hydrocephalus, corneal clouding) in addition to the primary diagnosis.
• Ensure documentation specifies "Hurler's syndrome" or "MPS I H" to support this specific code.