Mucopolysaccharidosis, type II

This code represents Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, a rare, inherited lysosomal storage disorder caused by a deficiency of the iduronate-2-sulfatase enzyme. This deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs, resulting in progressive multi-systemic clinical manifestations.

Use this code for patients diagnosed with Hunter syndrome, confirmed through enzyme assay or genetic testing. It is appropriate for documenting the underlying genetic disorder responsible for a wide range of symptoms, including skeletal abnormalities, organomegaly, neurological involvement, and distinctive facial features. Documentation should clearly state the diagnosis of MPS II.

• Ensure documentation specifies "type II" to differentiate from other mucopolysaccharidoses.
• Code any associated manifestations (e.g., cardiomyopathy, hepatosplenomegaly, joint contractures) separately as secondary diagnoses.
• Do not confuse with other MPS types (e.g., Hurler syndrome, Maroteaux-Lamy syndrome) which have distinct ICD-10-CM codes.