Zellweger syndrome

This code identifies Zellweger syndrome, a rare, inherited peroxisomal biogenesis disorder characterized by the absence or reduction of functional peroxisomes. It primarily affects the brain, liver, and kidneys, leading to severe neurological dysfunction, liver failure, and skeletal abnormalities.

Assign this code for patients diagnosed with Zellweger syndrome, typically confirmed through genetic testing or biochemical analysis showing elevated very long-chain fatty acids (VLCFAs). Documentation should clearly indicate the diagnosis of Zellweger syndrome, often presenting in infancy with hypotonia, seizures, and distinctive facial features.

• Ensure documentation specifies "Zellweger syndrome" and not a related peroxisomal disorder.
• Code any associated manifestations or complications, such as seizures or liver dysfunction, as secondary diagnoses.
• Genetic testing results confirming the diagnosis should be present in the medical record.