ICD10 code of Sandhoff Disease and ICD9 code

Sandhoff disease is a rare genetic disorder that falls under the category of lysosomal storage disorders. It is caused by a mutation in the HEXB gene, resulting in a deficiency of the enzyme beta-hexosaminidase. This enzyme is crucial for the breakdown of certain lipids in the body, particularly GM2 gangliosides. The accumulation of these lipids in various tissues and organs leads to the progressive deterioration of the nervous system.

In the International Classification of Diseases, 10th Revision (ICD-10), Sandhoff disease is classified under the code E75.0. This code is specifically assigned to GM2 gangliosidosis, which encompasses both Sandhoff disease and Tay-Sachs disease. It is important to note that Sandhoff disease is a specific subtype of GM2 gangliosidosis and has its unique ICD-10 code.

In the previous revision, the International Classification of Diseases, 9th Revision (ICD-9), Sandhoff disease was classified under the code 330.1. This code falls under the broader category of "GM2 gangliosidosis and other hexosaminidase deficiencies." Similar to ICD-10, the ICD-9 code for Sandhoff disease indicates its association with the deficiency of hexosaminidase enzymes and the resulting storage disorder.

Sandhoff disease is a devastating condition that primarily affects the nervous system, leading to progressive neurodegeneration, developmental delays, muscle weakness, seizures, and ultimately, a shortened lifespan. The ICD-10 and ICD-9 codes assigned to this disorder aid in its identification, documentation, and tracking for medical and research purposes.

by Diseasemaps