Gaucher Disease
Gaucher-SchlagenhauferGlucocerebrosidase DeficiencyGlucocerebrosidosis+1 more
Also known as:
Gaucher-SchlagenhauferGlucocerebrosidase DeficiencyGlucocerebrosidosisGlucosyl Ceramide Lipidosis
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
📋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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