Zellweger-like syndrome

This code identifies Zellweger-like syndrome, a rare, inherited peroxisomal biogenesis disorder (PBD) characterized by a milder clinical presentation and later onset compared to classic Zellweger syndrome. It involves impaired peroxisome function, leading to the accumulation of very long-chain fatty acids and other metabolic abnormalities. Patients typically present with developmental delay, hypotonia, liver dysfunction, and visual or hearing impairments.

Use this code for patients diagnosed with Zellweger-like syndrome based on clinical findings, biochemical testing (e.g., elevated very long-chain fatty acids), and/or genetic testing confirming mutations in PEX genes. This diagnosis is typically made by a geneticist or neurologist. Documentation should clearly distinguish it from classic Zellweger syndrome or other PBDs.

• Ensure documentation specifies "Zellweger-like syndrome" to differentiate from other peroxisomal disorders.
• Do not confuse with G80.x codes for cerebral palsy, even if developmental delays are present; this code specifies the underlying metabolic disorder.
• Sequence as a primary diagnosis when it is the reason for the encounter, or as a secondary diagnosis when managing complications related to the syndrome.