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📋Overview
Fabry disease is a rare inherited lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase A. This leads to accumulation of globotriaosylceramide (GL-3) in various tissues, causing progressive multi-organ damage. It is an X-linked genetic condition primarily affecting males, though females can also be symptomatic. Fabry disease is the modern preferred term; no widely used synonyms exist.
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Medical codes (for reference)
UMLS CUI: C0002986ICD-10-CM
E75.21
MeSH
D000795
SNOMED CT (US)
16652001124464003
Codes are provided for reference and interoperability. They are not a diagnosis.
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