Acid sphingomyelinase deficiency ASMD)
A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities sphingomyelin phosphodiesterase) or defects in intracellular transport, resulting in the accumulation of sphingomyelins and cholesterol. There are various subtypes based on their clinical and genetic differences.
An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
Caused by deficiency of sphingomyelinase, resulting in accumulation of sphingomyelin in the reticuloendothelial system, mental and physical retardation, enlarged liver and spleen, anemia, and blindness.
E75.24 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.
The 2023 edition of ICD-10-CM E75.24 became effective on October 1, 2022.
This is the American ICD-10-CM version of E75.24 – other international versions of ICD-10 E75.24 may differ.