ICD10 code of Tay-Sachs disease and ICD9 code

The International Classification of Diseases (ICD) codes for Tay-Sachs disease are E75.02 in the ICD-10-CM system and 330.1 in the ICD-9-CM system. These codes are used by healthcare providers and insurance systems to specifically identify and track clinical data related to this rare neurodegenerative disorder.

What is the clinical significance of the Tay-Sachs disease codes?

The ICD-10 code E75.02 is essential for accurately documenting Tay-Sachs disease in medical records, which facilitates precise billing, insurance coverage, and public health reporting. Because Tay-Sachs disease is a rare lysosomal storage disorder caused by mutations in the HEXA gene, these codes allow researchers to aggregate data and improve the understanding of how the disease impacts families globally.

How is Tay-Sachs disease diagnosed?

Diagnosis of Tay-Sachs disease typically involves biochemical testing to measure the activity of the enzyme hexosaminidase A in the blood or skin cells. If enzyme activity is significantly reduced or absent, genetic testing is used to confirm the diagnosis by identifying pathogenic variants in the HEXA gene. Early detection is critical for families seeking genetic counseling and reproductive options.

What are the key clinical features of Tay-Sachs disease?

Tay-Sachs disease is characterized by the progressive destruction of nerve cells in the brain and spinal cord. While the infantile form is the most common, symptoms can vary depending on the age of onset:

• Exaggerated startle response to loud noises (often seen in infants).


• Progressive loss of motor skills and muscle weakness.


• Cherry-red spot on the macula of the eye.


• Cognitive decline and seizures as the condition progresses.


• Late-onset forms may present with psychiatric symptoms or motor coordination issues in adolescence or adulthood.

Next steps

• Consult with a board-certified clinical geneticist to discuss carrier screening and family planning.


• Connect with the 22 members of the Tay-Sachs disease community on DiseaseMaps.org to share experiences and find emotional support.


• Contact the National Tay-Sachs & Allied Diseases Association (NTSAD) for specialized resources and clinical trial updates.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment from a qualified healthcare provider.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Tay-Sachs disease profile.


• Orphanet: Rare disease database entry for Tay-Sachs disease (ORPHA:841).


• OMIM (Online Mendelian Inheritance in Man): Entry #272800 for Tay-Sachs disease.


• National Tay-Sachs & Allied Diseases Association (NTSAD): Patient support and clinical information.