Gaucher Disease
Gaucher-SchlagenhauferGlucocerebrosidase DeficiencyGlucocerebrosidosis+1 more
Also known as:
Gaucher-SchlagenhauferGlucocerebrosidase DeficiencyGlucocerebrosidosisGlucosyl Ceramide Lipidosis
📋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.
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Medical codes (for reference)
UMLS CUI: C0017205ICD-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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