E75.02

HCC Category Mapping

What This Code Means

Tay-Sachs disease is a rare inherited genetic disorder where the body cannot break down certain fatty substances in the brain and nerve cells, leading to progressive neurological damage and severe developmental problems. This condition typically appears in infancy and causes progressive loss of mental and physical abilities.

Coding Tips

• •Tay-Sachs disease is a specific lysosomal storage disorder; ensure you are not confusing it with other sphingolipidoses or GM2 gangliosidosis variants (codes E75.00-E75.09 represent different GM2 gangliosidosis types)
• •This code should be accompanied by documentation of the patient's age of onset and current neurological status; consider additional codes for associated complications such as seizures (G40.-) or developmental delays (F88, F89)

Clinical Significance

Tay-Sachs disease is a fatal inherited lysosomal storage disorder caused by hexosaminidase A deficiency, leading to progressive accumulation of GM2 gangliosides in neurons. The classic infantile form causes developmental regression, cherry-red macular spot, seizures, blindness, and death by age 3-5 years. Late-onset forms cause progressive neurological decline with longer survival. Carrier screening is available for high-risk populations.

Documentation Requirements

• ✓Confirmed diagnosis of Tay-Sachs disease
• ✓Hexosaminidase A enzyme assay showing deficiency (with normal hexosaminidase B to distinguish from Sandhoff)
• ✓HEXA gene mutation analysis if performed
• ✓Form specification: infantile, juvenile, or late-onset/chronic
• ✓Ophthalmologic findings including cherry-red macular spot if present
• ✓Current neurological status and rate of progression

Commonly Confused Codes