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📋Overview
Tay-Sachs disease is a rare inherited neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A, leading to accumulation of GM2 ganglioside in nerve cells. It is a classic lysosomal storage disorder primarily affecting the central nervous system. The term Tay-Sachs remains the preferred name for this condition.
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Medical codes (for reference)
UMLS CUI: C0039373ICD-10-CM
E75.02
MeSH
D013661
SNOMED CT (US)
111385000
Codes are provided for reference and interoperability. They are not a diagnosis.
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