ICD-10 Diagnosis Code E75.21

Fabry (-Anderson) disease

Diagnosis Code E75.21

ICD-10: E75.21
Short Description: Fabry (-Anderson) disease
Long Description: Fabry (-Anderson) disease
This is the 2017 version of the ICD-10-CM diagnosis code E75.21

Code Classification
  • Endocrine, nutritional and metabolic diseases
    • Metabolic disorders (E70-E88)
      • Disord of sphingolipid metab and oth lipid storage disorders (E75)

Information for Patients

Genetic Brain Disorders

Also called: Inborn genetic brain disorders

A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. Genetic brain disorders affect the development and function of the brain.

Some genetic brain disorders are due to random gene mutations or mutations caused by environmental exposure, such as cigarette smoke. Other disorders are inherited, which means that a mutated gene or group of genes is passed down through a family. They can also be due to a combination of both genetic changes and other outside factors.

Some examples of genetic brain disorders include

  • Leukodystrophies
  • Phenylketonuria
  • Tay-Sachs disease
  • Wilson disease

Many people with genetic brain disorders fail to produce enough of certain proteins that influence brain development and function. These brain disorders can cause serious problems that affect the nervous system. Some have treatments to control symptoms. Some are life-threatening.

  • Lesch-Nyhan syndrome
  • Maple syrup urine disease
  • Menkes syndrome
  • Neuronal ceroid lipofuscinoses (NCLS)
  • Niemann-Pick disease

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Fabry disease Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
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