Diagnosis Code E75.2
Information for Medical Professionals
References found for the code E75.2 in the Index of Diseases and Injuries:
- Type 1 Excludes Notes: Type 1 Excludes Notes
A type 1 Excludes note is a pure excludes note. It means “NOT CODED HERE!” An Excludes1 note indicates that the code excluded should never be used at the same time as the code above the Excludes1 note. An Excludes1 is used when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition.
- adrenoleukodystrophy [Addison-Schilder] (E71.528)
Information for Patients
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
- 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