Specific code 2014 ICD-9-CM Diagnosis Code 356.3
Refsum's disease
  • Billable Code
  • ICD-9-CM 356.3 will be replaced by an equivalent ICD-10-CM code (or codes) when the United States transitions from ICD-9-CM to ICD-10-CM on October 1, 2015.
  • ICD-9-CM 356.3 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
Disease Synonyms
  • Phytanic acid storage disease
Clinical Information
  • A rare autosomal recessive disorder characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.
  • An autosomal recessive familial disorder that usually presents in childhood with polyneuropathy; sensorineural hearing loss; ichthyosis; ataxia; retinitis pigmentosa; and cardiomyopathies. (from Joynt, Clinical Neurology, 1991, ch37, p58-9; rev med interne 1996;17(5):391-8) this condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-coa hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of phytanic acid in peroxisomes.
  • Autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.
Applies To
  • Heredopathia atactica polyneuritiformis
Convert to ICD-10-CM: 356.3 converts directly to:
  • 2014 ICD-10-CM G60.1 Refsum's disease
ICD-9-CM Volume 2 Index entries containing back-references to 356.3:
  • Disease, diseased - see also Syndrome
    • Refsum's (heredopathia atactica polyneuritiformis) 356.3
  • Heredopathia atactica polyneuritiformis 356.3
  • Neuropathy, neuropathic (see also Disorder, nerve) 355.9
    • hypertrophic
      • Charcôt-Marie-Tooth 356.1
      • Déjérine-Sottas 356.0
      • interstitial 356.9
      • Refsum 356.3
  • Polyneuritis, polyneuritic (see also Polyneuropathy) 356.9
    • hereditary ataxic 356.3
  • Refsum's disease or syndrome (heredopathia atactica polyneuritiformis) 356.3
  • Syndrome - see also Disease
    • Refsum's (heredopathia atactica polyneuritiformis) 356.3
ICD-9-CM codes are used in medical billing and coding to describe diseases, injuries, symptoms and conditions. ICD-9-CM 356.3 is one of thousands of ICD-9-CM codes used in healthcare. Although ICD-9-CM and CPT codes are largely numeric, they differ in that CPT codes describe medical procedures and services. Can't find a code? Start at the root of ICD-9-CM, check the 2014 ICD-9-CM Index or use the search engine at the top of this page to lookup any code.