2020 ICD-10-CM Diagnosis Code G60.1

Refsum's disease

    2016 2017 2018 2019 2020 Billable/Specific Code
  • G60.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
  • The 2020 edition of ICD-10-CM G60.1 became effective on October 1, 2019.
  • This is the American ICD-10-CM version of G60.1 - other international versions of ICD-10 G60.1 may differ.
Applicable To
  • Infantile Refsum disease
The following code(s) above G60.1 contain annotation back-references
Annotation Back-References
In this context, annotation back-references refer to codes that contain:
  • Applicable To annotations, or
  • Code Also annotations, or
  • Code First annotations, or
  • Excludes1 annotations, or
  • Excludes2 annotations, or
  • Includes annotations, or
  • Note annotations, or
  • Use Additional annotations
that may be applicable to G60.1:
  • G00-G99
    2020 ICD-10-CM Range G00-G99

    Diseases of the nervous system

    Type 2 Excludes
    • certain conditions originating in the perinatal period (P04-P96)
    • certain infectious and parasitic diseases (A00-B99)
    • complications of pregnancy, childbirth and the puerperium (O00-O9A)
    • congenital malformations, deformations, and chromosomal abnormalities (Q00-Q99)
    • endocrine, nutritional and metabolic diseases (E00-E88)
    • injury, poisoning and certain other consequences of external causes (S00-T88)
    • neoplasms (C00-D49)
    • symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified (R00-R94)
    Diseases of the nervous system
  • G60-G65
    2020 ICD-10-CM Range G60-G65

    Polyneuropathies and other disorders of the peripheral nervous system

    Type 1 Excludes
    Polyneuropathies and other disorders of the peripheral nervous system
Approximate Synonyms
  • Phytanic acid storage disease
Clinical Information
  • A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
  • 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.
  • An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of refsum disease. Features include mental retardation; sensorineural hearing loss; osteoporosis; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of 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.
ICD-10-CM G60.1 is grouped within Diagnostic Related Group(s) (MS-DRG v37.0):
  • 091 Other disorders of nervous system with mcc
  • 092 Other disorders of nervous system with cc
  • 093 Other disorders of nervous system without cc/mcc

Convert G60.1 to ICD-9-CM

Code History
  • 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
  • 2017 (effective 10/1/2016): No change
  • 2018 (effective 10/1/2017): No change
  • 2019 (effective 10/1/2018): No change
  • 2020 (effective 10/1/2019): No change
Code annotations containing back-references to G60.1:
  • Type 1 Excludes: E71.3
    , E71.51
    , E72.3
    , E75
    , Q80
    ICD-10-CM Diagnosis Code E71.3

    Disorders of fatty-acid metabolism

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes
    • peroxisomal disorders (E71.5)
    • Refsum's disease (G60.1)
    • Schilder's disease (G37.0)
    Type 2 Excludes
    • carnitine deficiency due to inborn error of metabolism (E71.42)
    ICD-10-CM Diagnosis Code E71.51

    Disorders of peroxisome biogenesis

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Applicable To
    • Group 1 peroxisomal disorders
    Type 1 Excludes
    ICD-10-CM Diagnosis Code E72.3

    Disorders of lysine and hydroxylysine metabolism

      2016 2017 2018 2019 2020 Billable/Specific Code
    Applicable To
    • Glutaric aciduria NOS
    • Glutaric aciduria (type I)
    • Hydroxylysinemia
    • Hyperlysinemia
    Type 1 Excludes
    ICD-10-CM Diagnosis Code E75

    Disorders of sphingolipid metabolism and other lipid storage disorders

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes
    ICD-10-CM Diagnosis Code Q80

    Congenital ichthyosis

      2016 2017 2018 2019 2020 Non-Billable/Non-Specific Code
    Type 1 Excludes

Diagnosis Index entries containing back-references to G60.1:
  • Disease, diseased - see also Syndrome
    • Refsum's G60.1 (heredopathia atactica polyneuritiformis)
  • Heredopathia atactica polyneuritiformis G60.1
  • Neuropathy, neuropathic G62.9
    ICD-10-CM Diagnosis Code G62.9

    Polyneuropathy, unspecified

      2016 2017 2018 2019 2020 Billable/Specific Code
    Applicable To
    • Neuropathy NOS
    • hypertrophic G60.0
      ICD-10-CM Diagnosis Code G60.0

      Hereditary motor and sensory neuropathy

        2016 2017 2018 2019 2020 Billable/Specific Code
      Applicable To
      • Charcot-Marie-Tooth disease
      • Déjérine-Sottas disease
      • Hereditary motor and sensory neuropathy, types I-IV
      • Hypertrophic neuropathy of infancy
      • Peroneal muscular atrophy (axonal type) (hypertrophic type)
      • Roussy-Levy syndrome
      • Refsum G60.1
  • Polyneuritis, polyneuritic - see also Polyneuropathy
    • hereditary ataxic G60.1
  • Refsum's disease or syndrome G60.1
  • Syndrome - see also Disease
    • Refsum's G60.1

ICD-10-CM Codes Adjacent To G60.1
G57.92 Unspecified mononeuropathy of left lower limb
G57.93 Unspecified mononeuropathy of bilateral lower limbs
G58 Other mononeuropathies
G58.0 Intercostal neuropathy
G58.7 Mononeuritis multiplex
G58.8 Other specified mononeuropathies
G58.9 Mononeuropathy, unspecified
G59 Mononeuropathy in diseases classified elsewhere
G60 Hereditary and idiopathic neuropathy
G60.0 Hereditary motor and sensory neuropathy
G60.1 Refsum's disease
G60.2 Neuropathy in association with hereditary ataxia
G60.3 Idiopathic progressive neuropathy
G60.8 Other hereditary and idiopathic neuropathies
G60.9 Hereditary and idiopathic neuropathy, unspecified
G61 Inflammatory polyneuropathy
G61.0 Guillain-Barre syndrome
G61.1 Serum neuropathy
G61.8 Other inflammatory polyneuropathies
G61.81 Chronic inflammatory demyelinating polyneuritis
G61.82 Multifocal motor neuropathy

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.