MEDICAL CODING TRAINING CENTRE IN CALICUT

 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:

1. type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not involve the brain. It can occur at any age.
2. type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
3. in type 3, there may be liver and spleen enlargement, and signs of brain involvement appear gradually.

gaucher's disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.

ICD-10-CM E75.22 is grouped within Diagnostic Related Group(s) (MS-DRG v38.0):

• 642 Inborn and other disorders of metabolism

Convert E75.22 to ICD-9-CM

Code History

• 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
• 2017 (effective 10/1/2016): No change
• 2018 (effective 10/1/2017): No change
• 2019 (effective 10/1/2018): No change
• 2020 (effective 10/1/2019): No change
• 2021 (effective 10/1/2020): No change

Code annotations containing back-references to E75.22:

• Code Also: I27.29

Diagnosis Index entries containing back-references to E75.22:

• Cerebroside lipidosis E7.22
• Degeneration, degenerative 
• brain (cortical) (progressive)G31.9
• • • in
      
      • Gaucher's disease E75.22
• Gaucher's disease or splenomegaly E75.22 (adult) (infantile)
• Lipidosis E75.22
  
  • cerebrosideE75.22
• Splenomegaly, splenomegalia (Bengal) (cryptogenic) (idiopathic) (tropical) R16.1
  • Gaucher's E75.22

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.

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