ICD-10-CM Code G60.1

Refsum's disease

Version 2021 Billable Code

Valid for Submission

G60.1 is a billable code used to specify a medical diagnosis of refsum's disease. The code is valid for the fiscal year 2021 for the submission of HIPAA-covered transactions. The ICD-10-CM code G60.1 might also be used to specify conditions or terms like ataxia co-occurrent and due to phytanic acid storage disease, dilated cardiomyopathy secondary to metabolic disorder, dilated cardiomyopathy secondary to phytanic acid storage disease, hsmn iv, infantile refsum's disease, loss of multiple peroxisomal functions, etc

ICD-10:G60.1
Short Description:Refsum's disease
Long Description:Refsum's disease

Tabular List of Diseases and Injuries

The Tabular List of Diseases and Injuries is a list of ICD-10 codes, organized "head to toe" into chapters and sections with guidance for inclusions, exclusions, descriptions and more. The following references are applicable to the code G60.1:

Inclusion Terms

Inclusion Terms
These terms are the conditions for which that code is to be used. The terms may be synonyms of the code title, or, in the case of "other specified" codes, the terms are a list of the various conditions assigned to that code. The inclusion terms are not necessarily exhaustive. Additional terms found only in the Alphabetic Index may also be assigned to a code.
  • Infantile Refsum disease

Index to Diseases and Injuries

The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for the code G60.1 are found in the index:


Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Ataxia co-occurrent and due to phytanic acid storage disease
  • Dilated cardiomyopathy secondary to metabolic disorder
  • Dilated cardiomyopathy secondary to phytanic acid storage disease
  • HSMN IV
  • Infantile Refsum's disease
  • Loss of multiple peroxisomal functions
  • Peroxisome biogenesis disorder
  • Pseudoinfantile Refsum's disease

Clinical Information

  • REFSUM DISEASE-. 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;175:391 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.
  • REFSUM DISEASE INFANTILE-. 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.

Convert G60.1 to ICD-9

Code Classification

  • Diseases of the nervous system (G00–G99)
    • Polyneuropathies and other disorders of the peripheral nervous system (G60-G65)
      • Hereditary and idiopathic neuropathy (G60)

Code History

  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016
    (First year ICD-10-CM implemented into the HIPAA code set)
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021

Information for Patients


Peripheral Nerve Disorders

Also called: Neuritis, Peripheral neuritis, Peripheral neuropathy

Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body.

There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders.

Symptoms often start gradually, and then get worse. They include

  • Numbness
  • Pain
  • Burning or tingling
  • Muscle weakness
  • Sensitivity to touch

Treatment aims to treat any underlying problem, reduce pain and control symptoms.

NIH: National Institute of Neurological Disorders and Stroke

  • Axillary nerve dysfunction (Medical Encyclopedia)
  • Chronic inflammatory polyneuropathy (Medical Encyclopedia)
  • Common peroneal nerve dysfunction (Medical Encyclopedia)
  • Distal median nerve dysfunction (Medical Encyclopedia)
  • Femoral nerve dysfunction (Medical Encyclopedia)
  • Glossopharyngeal neuralgia (Medical Encyclopedia)
  • Metabolic neuropathies (Medical Encyclopedia)
  • Mononeuritis multiplex (Medical Encyclopedia)
  • Neuralgia (Medical Encyclopedia)
  • Neuropathy secondary to drugs (Medical Encyclopedia)
  • Peripheral neuropathy (Medical Encyclopedia)
  • Radial nerve dysfunction (Medical Encyclopedia)
  • Sensorimotor polyneuropathy (Medical Encyclopedia)
  • Tibial nerve dysfunction (Medical Encyclopedia)
  • Ulnar nerve dysfunction (Medical Encyclopedia)

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Refsum disease Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. Vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which often becomes apparent in childhood. Over a period of years, the disease disrupts side (peripheral) vision and may eventually lead to blindness.Vision loss and anosmia are seen in almost everyone with Refsum disease, but other signs and symptoms vary. About one-third of affected individuals are born with bone abnormalities of the hands and feet. Features that appear later in life can include progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). Additionally, some people with Refsum disease develop an abnormal heart rhythm (arrhythmia) and related heart problems that can be life-threatening.
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Zellweger spectrum disorder Zellweger spectrum disorder is a group of conditions that have overlapping signs and symptoms and affect many parts of the body. This group of conditions includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum. Zellweger syndrome is the most severe form of the Zellweger spectrum disorder, NALD is intermediate in severity, and infantile Refsum disease is the least severe form. Because these three conditions are now considered one disorder, some researchers prefer not to use the separate condition names but to instead refer to cases as severe, intermediate, or mild.Individuals with Zellweger syndrome, at the severe end of the spectrum, develop signs and symptoms of the condition during the newborn period. These infants experience weak muscle tone (hypotonia), feeding problems, hearing and vision loss, and seizures. These problems are caused by the breakdown of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. The part of the brain and spinal cord that contains myelin is called white matter. Destruction of myelin (demyelination) leads to loss of white matter (leukodystrophy). Children with Zellweger syndrome also develop life-threatening problems in other organs and tissues, such as the liver, heart, and kidneys. They may have skeletal abnormalities, including a large space between the bones of the skull (fontanelles) and characteristic bone spots known as chondrodysplasia punctata that can be seen on x-ray. Affected individuals have distinctive facial features, including a flattened face, broad nasal bridge, and high forehead. Children with Zellweger syndrome typically do not survive beyond the first year of life.People with NALD or infantile Refsum disease, which are at the less-severe end of the spectrum, have more variable features than those with Zellweger syndrome and usually do not develop signs and symptoms of the disease until late infancy or early childhood. They may have many of the features of Zellweger syndrome; however, their condition typically progresses more slowly. Children with these less-severe conditions often have hypotonia, vision problems, hearing loss, liver dysfunction, developmental delay, and some degree of intellectual disability. Most people with NALD survive into childhood, and those with infantile Refsum disease may reach adulthood. In rare cases, individuals at the mildest end of the condition spectrum have developmental delay in childhood and hearing loss or vision problems beginning in adulthood and do not develop the other features of this disorder.
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