E75.22

Gaucher disease

An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase glucosylceramidase) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the mononuclear phagocyte system. The characteristic gaucher cells, glycosphingolipid-filled histiocytes, displace normal cells in bone marrow and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.

Autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons.

Gaucher’s disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.there are three types:

E75.22 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E75.22 – other international versions of ICD-10 E75.22 may differ.