2013 ICD-9-CM Diagnosis Code 330.1
- group of often fatal inherited diseases marked by the accumulation of gangliosides in lysosomes secondary to enzymatic deficiency states; gangliosidoses include Tay-Sachs disease, gangliosidosis GM1, gangliosidoses GM2, and Sandhoff disease; which share the infantile or childhood onset of central nervous system deterioration.
- autosomal recessive inherited gangliosidosis characterized by the onset in the first 6 months of life of an exaggerated startle response, delay in psychomotor development, hypotonia (followed by spasticity), visual loss, and a macular cherry red spot; hexosaminidase A is deficient, leading to the accumulation of GM2 ganglioside in neurons of the central nervous system and retina; this condition is strongly associated with Ashkenazic Jewish ancestry.
- ICD-9-CM 330.1 is a billable medical code that can be used to specify a diagnosis on a reimbursement claim.
Convert 330.1 to ICD-10-CM
ICD-9-CM Volume 2 Index entries containing back-references to 330.1: