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Gaucher Disease - Medical Condition Information

Gaucher Disease

Gaucher-SchlagenhauferGlucocerebrosidase DeficiencyGlucocerebrosidosis+1 more
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📋Overview

Gaucher disease is a rare inherited lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase. This leads to accumulation of glucocerebroside in certain cells, primarily macrophages, causing multi-organ involvement. It is classified into several types based on neurological involvement and severity. Gaucher disease is the modern preferred term; older or less specific labels include glucocerebrosidase deficiency or glucocerebrosidosis.

Also known as:

Gaucher-SchlagenhauferGlucocerebrosidase DeficiencyGlucocerebrosidosisGlucosyl Ceramide Lipidosis
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Medical codes (for reference)

UMLS CUI: C0017205
ICD-10-CM
E75.22
MeSH
D005776
SNOMED CT (US)
19079400662201009180485001

Codes are provided for reference and interoperability. They are not a diagnosis.

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