ICD-10-CM Code E75.00

GM2 gangliosidosis, unspecified

Version 2021 Billable Code

Valid for Submission

E75.00 is a billable code used to specify a medical diagnosis of gm2 gangliosidosis, unspecified. The code is valid for the fiscal year 2021 for the submission of HIPAA-covered transactions. The ICD-10-CM code E75.00 might also be used to specify conditions or terms like adult chronic gm 2 gangliosidosis or gm 2 gangliosidosis or infantile gm 2 gangliosidosis.

ICD-10:E75.00
Short Description:GM2 gangliosidosis, unspecified
Long Description:GM2 gangliosidosis, unspecified

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 E75.00 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:

  • Adult chronic GM 2 gangliosidosis
  • GM 2 gangliosidosis
  • Infantile GM 2 gangliosidosis

Clinical Information

  • SANDHOFF DISEASE-. an autosomal recessive neurodegenerative disorder characterized by an accumulation of gm2 ganglioside in neurons and other tissues. it is caused by mutation in the common beta subunit of hexosaminidase a and hexosaminidase b. thus this disease is also known as the o variant since both hexosaminidase a and b are missing. clinically it is indistinguishable from tay sachs disease.
  • TAY SACHS DISEASE-. an autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response followed by paralysis dementia and blindness. it is caused by mutation in the alpha subunit of the hexosaminidase a resulting in lipid laden ganglion cells. it is also known as the b variant with increased hexosaminidase b but absence of hexosaminidase a and is strongly associated with ashkenazic jewish ancestry.
  • GANGLIOSIDOSES GM2-. a group of recessively inherited diseases characterized by the intralysosomal accumulation of gm2 ganglioside in the neuronal cells. subtypes include mutations of enzymes in the beta n acetylhexosaminidases system or gm2 activator protein leading to disruption of normal degradation of gangliosides a subclass of acidic glycosphingolipids.
  • TAY SACHS DISEASE AB VARIANT-. a progressive neurodegenerative disorder that begins with muscle weakness then progresses to startle reaction retardation and seizures. it is characterized by the accumulation of gm2 ganglioside in neurons that is caused by a lack of gm2 activator protein function. the ab variant designation refers to the increase of both hexosaminidase a and hexosaminidase b in tissues that lack of gm2 activator protein.

Convert E75.00 to ICD-9

  • 330.1 - Cerebral lipidoses (Approximate Flag)

Code Classification

  • Endocrine, nutritional and metabolic diseases (E00–E90)
    • Metabolic disorders (E70-E88)
      • Disord of sphingolipid metab and oth lipid storage disorders (E75)

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


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

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