Valid for Submission
E75.19 is a billable diagnosis code used to specify a medical diagnosis of other gangliosidosis. The code E75.19 is valid during the fiscal year 2021 from October 01, 2020 through September 30, 2021 for the submission of HIPAA-covered transactions.
The ICD-10-CM code E75.19 might also be used to specify conditions or terms like adult gm1 gangliosidosis, gm1 gangliosidosis, infantile gm1 gangliosidosis or juvenile gm1 gangliosidosis.
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 E75.19:
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.
- GM1 gangliosidosis
- GM3 gangliosidosis
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 E75.19 are found in the index:
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Adult GM1 gangliosidosis
- GM1 gangliosidosis
- Infantile GM1 gangliosidosis
- Juvenile GM1 gangliosidosis
- GANGLIOSIDOSES-. a group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. they are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
- 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.
- GANGLIOSIDOSIS GM1-. an autosomal recessive neurodegenerative disorder caused by the absence or deficiency of beta galactosidase. it is characterized by intralysosomal accumulation of gm1 ganglioside and oligosaccharides primarily in neurons of the central nervous system. the infantile form is characterized by muscle hypotonia poor psychomotor development hirsutism hepatosplenomegaly and facial abnormalities. the juvenile form features hyperacusis; seizures; and psychomotor retardation. the adult form features progressive dementia; ataxia; and muscle spasticity. from menkes textbook of child neurology 5th ed pp96 7
- 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 E75.19 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E75.19 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
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
- 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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GM1 gangliosidosis GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.The signs and symptoms of the most severe form of GM1 gangliosidosis, called type I or the infantile form, usually become apparent by the age of 6 months. Infants with this form of the disorder typically appear normal until their development slows and muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmentally regress) and may develop an exaggerated startle reaction to loud noises. As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. In some cases, affected individuals have distinctive facial features that are described as "coarse," enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not survive past early childhood.Type II GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type II have normal early development, but they begin to develop signs and symptoms of the condition around the age of 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood.The third type of GM1 gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III.
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