E71.518
BillableOther disorders of peroxisome biogenesis
HCC Category Mapping
V24HCC 23 — Other Significant Endocrine and Metabolic Disorders
0.230ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders
0.000RxHCCHCC 43 — Other Significant Endocrine and Metabolic Disorders
0.000What This Code Means
Rare inherited disorders affecting how cells form and maintain peroxisomes, causing various metabolic and neurological problems not classified as other specific peroxisomal conditions.
Coding Tips
- •Use this code for peroxisomal biogenesis disorders that don't fit Zellweger or neonatal adrenoleukodystrophy categories
- •Document specific clinical features and metabolic abnormalities to support medical necessity and treatment planning
Clinical Significance
Other disorders of peroxisome biogenesis captures conditions on the Zellweger spectrum and related peroxisome biogenesis disorders not fitting Zellweger syndrome or neonatal adrenoleukodystrophy classifications, including infantile Refsum disease. These conditions result from mutations in PEX genes causing impaired peroxisome assembly with variable clinical severity. Patients may present with developmental delay, liver dysfunction, and sensory impairments.
Documentation Requirements
- ✓Document the specific peroxisome biogenesis disorder identified, PEX gene mutations if known, very long chain fatty acid and plasmalogen levels, clinical manifestations and severity, and current management plan.
- ✓Record why the condition does not fit more specific peroxisomal disorder codes.