Valid for Submission
E75.02 is a billable diagnosis code used to specify a medical diagnosis of tay-sachs disease. The code E75.02 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 E75.02 might also be used to specify conditions or terms like b variant hexosaminidase a deficiency, b variant hexosaminidase a deficiency - adult, b variant hexosaminidase a deficiency - infantile, b variant hexosaminidase a deficiency - juvenile, b1 variant hexosaminidase a deficiency , tay-sachs disease, etc.
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 E75.02 are found in the index:
- - Sachs' amaurotic familial idiocy or disease - E75.02
- - Sachs-Tay disease - E75.02
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- B variant hexosaminidase A deficiency
- B variant hexosaminidase A deficiency - adult
- B variant hexosaminidase A deficiency - infantile
- B variant hexosaminidase A deficiency - juvenile
- B1 variant hexosaminidase A deficiency
- Tay-Sachs disease
- Tay-Sachs disease, variant AB
- GM2 GANGLIOSIDE-. a glycosphingolipid that accumulates due to a deficiency of hexosaminidase a or b beta n acetylhexosaminidases or gm2 activator protein resulting in gangliosidoses heredity metabolic disorders that include tay sachs disease and sandhoff 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.
- 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 E75.02 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E75.02 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
Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems. .
Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.
The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease.
There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.
NIH: National Institute of Neurological Disorders and Stroke
- Tay-Sachs disease (Medical Encyclopedia)
[Learn More in MedlinePlus]
Tay-Sachs disease Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease.
[Learn More in MedlinePlus]