2024 ICD-10-CM Diagnosis Code E75.01

Sandhoff disease

ICD-10-CM Code:
E75.01
ICD-10 Code for:
Sandhoff disease
Is Billable?
Yes - Valid for Submission
Chronic Condition Indicator: [1]
Chronic
Code Navigator:

Code Classification

  • Endocrine, nutritional and metabolic diseases
    (E00–E89)
    • Metabolic disorders
      (E70-E88)
      • Disorders of sphingolipid metabolism and other lipid storage disorders
        (E75)

E75.01 is a billable diagnosis code used to specify a medical diagnosis of sandhoff disease. The code is valid during the current fiscal year for the submission of HIPAA-covered transactions from October 01, 2023 through September 30, 2024.

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

  • Adult chronic GM2 gangliosidosis
  • Infantile GM2 gangliosidosis
  • Juvenile GM2 gangliosidosis
  • Sandhoff disease
  • Total hexosaminidase deficiency - adult
  • Total hexosaminidase deficiency - infantile
  • Total hexosaminidase deficiency - juvenile

Clinical Classification

Clinical CategoryCCSR Category CodeInpatient Default CCSROutpatient Default CCSR
Other nervous system disorders (often hereditary or degenerative)NVS006N - Not default inpatient assignment for principal diagnosis or first-listed diagnosis.N - Not default outpatient assignment for principal diagnosis or first-listed diagnosis.
Other specified and unspecified nutritional and metabolic disordersEND016Y - Yes, default inpatient assignment for principal diagnosis or first-listed diagnosis.Y - Yes, default outpatient assignment for principal diagnosis or first-listed diagnosis.

Clinical Information

  • Sandhoff Disease

    an autosomal recessive neurodegenerative disorder characterized by an accumulation of g(m2) 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.

Index to Diseases and Injuries References

The following annotation back-references for this diagnosis code are found in the injuries and diseases index. The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10-CM code(s).

Convert E75.01 to ICD-9-CM

  • ICD-9-CM Code: 330.1 - Cerebral lipidoses
    Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education


Tay-Sachs Disease

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


[Learn More in MedlinePlus]

Sandhoff disease

Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord (central nervous system). This condition is classified into three major types based on the age at which signs and symptoms first appear: infantile, juvenile, and adult.

The infantile form of Sandhoff disease is the most common and severe form and 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, and intellectual disability. 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 distinctive facial features, enlarged organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood.

The juvenile and adult forms of Sandhoff disease are very rare. Signs and symptoms are usually milder than those seen with the infantile form, although they vary widely. The juvenile form can begin between ages 2 and 10.  Characteristic features include speech difficulties, loss of cognitive function (dementia), seizures, and  loss of muscle coordination (ataxia). Adult Sandhoff disease is characterized by problems with movement and psychiatric problems.


[Learn More in MedlinePlus]

Code History

  • FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
  • FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
  • FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
  • FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
  • FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
  • FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
  • FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
  • FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
  • FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.