Valid for Submission
E79.1 is a billable diagnosis code used to specify a medical diagnosis of lesch-nyhan syndrome. The code E79.1 is valid during the fiscal year 2022 from October 01, 2021 through September 30, 2022 for the submission of HIPAA-covered transactions.
The ICD-10-CM code E79.1 might also be used to specify conditions or terms like deficiency of hypoxanthine phosphoribosyltransferase, lesch-nyhan syndrome or partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
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 coding notes and guidance for inclusions, exclusions, descriptions and more. The following references are applicable to the code E79.1:
Inclusion TermsInclusion 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.
- HGPRT deficiency
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 E79.1 are found in the index:
- - Arthropathy - See Also: Arthritis; - M12.9
- - Deficiency, deficient
- - Lesch-Nyhan syndrome - E79.1
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Deficiency of hypoxanthine phosphoribosyltransferase
- Lesch-Nyhan syndrome
- Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
- LESCH NYHAN SYNDROME-. an inherited disorder transmitted as a sex linked trait and caused by a deficiency of an enzyme of purine metabolism; hypoxanthine phosphoribosyltransferase. affected individuals are normal in the first year of life and then develop psychomotor retardation extrapyramidal movement disorders progressive spasticity and seizures. self destructive behaviors such as biting of fingers and lips are seen frequently. intellectual impairment may also occur but is typically not severe. elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. menkes textbook of child neurology 5th ed pp127
Convert E79.1 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E79.1 its ICD-9 equivalent. The approximate mapping means there is not an exact match between the ICD-10 code and the ICD-9 code and the mapped code is not a precise representation of the original code.
Information for Patients
Amino Acid Metabolism Disorders
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process.
One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.
These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.
Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.
[Learn More in MedlinePlus]
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.
[Learn More in MedlinePlus]
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Uric acid is a waste product of normal chemical processes and is found in blood and urine. Excess uric acid can be released from the blood and build up under the skin and cause gouty arthritis (arthritis caused by an accumulation of uric acid in the joints). Uric acid accumulation can also cause kidney and bladder stones.
The nervous system and behavioral disturbances experienced by people with Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as tensing of various muscles (dystonia), jerking movements (chorea), and flailing of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Self-injury (including biting and head banging) is the most common and distinctive behavioral problem in individuals with Lesch-Nyhan syndrome.
[Learn More in MedlinePlus]