Valid for Submission
E75.01 is a billable diagnosis code used to specify a medical diagnosis of sandhoff disease. The code E75.01 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 E75.01 might also be used to specify conditions or terms like adult chronic gm 2 gangliosidosis, infantile gm 2 gangliosidosis, juvenile gm 2 gangliosidosis, sandhoff disease, total hexosaminidase deficiency - adult , total hexosaminidase deficiency - infantile, 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 E75.01 are found in the index:
- - Sandhoff's disease - E75.01
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
- Infantile GM 2 gangliosidosis
- Juvenile GM 2 gangliosidosis
- Sandhoff disease
- Total hexosaminidase deficiency - adult
- Total hexosaminidase deficiency - infantile
- Total hexosaminidase deficiency - juvenile
- 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.
Convert E75.01 to ICD-9 Code
The General Equivalency Mapping (GEM) crosswalk indicates an approximate mapping between the ICD-10 code E75.01 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
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Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
The most common and severe form of Sandhoff 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 Sandhoff 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. Some affected children also have enlarged organs (organomegaly) or bone abnormalities. Children with the severe infantile form of Sandhoff disease usually live only into early childhood.
Other forms of Sandhoff disease are very rare. Signs and symptoms can begin 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 Sandhoff disease.
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