Skip to main content

Medical Subject Headings (thesaurus)

Search from vocabulary

  • Help
align
annotate
download

Concept information

... > Nutritional and Metabolic Diseases > Metabolic Diseases > Lipid Metabolism Disorders > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Fabry Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lipid Metabolism, Inborn Errors > Lipidoses > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Lysosomal Storage Diseases > Lysosomal Storage Diseases, Nervous System > Sphingolipidoses > Fabry Disease
Cardiovascular Diseases > Vascular Diseases > Cerebrovascular Disorders > Cerebral Small Vessel Diseases > Fabry Disease
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebrovascular Disorders > Cerebral Small Vessel Diseases > Fabry Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Fabry Disease

Preferred term

Fabry Disease  

Type

  • mesh:Descriptor

Definition

  • An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Broader concept

Related concepts

Synonym(s)

  • alpha-Galactosidase A Deficiency
  • alpha-Galactosidase A Deficiency Disease
  • Anderson-Fabry Disease
  • Angiokeratoma Corporis Diffusum
  • Angiokeratoma Diffuse
  • Angiokeratoma, Diffuse
  • Ceramide Trihexosidase Deficiency
  • Fabry's Disease
  • GLA Deficiency
  • Hereditary Dystopic Lipidosis

Allowable Qualifier(s)

In other languages

  • Maladie de Fabry

    French

  • Angiokératome diffus de Fabry
  • Angiokératose diffuse de Fabry
  • Angiokératose diffuse universelle
  • Déficit en alpha-galactosidase A
  • Sphingolipidose héréditaire de Fabry
  • Thésaurismose lipoïdique héréditaire

URI

http://data.loterre.fr/ark:/67375/JVR-L03WDG98-J

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 7/1/21