National Drug File - Reference Terminology - Fabry Disease [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000000411 http://purl.bioontology.org/ontology/NDFRT/N0000000411
Preferred Name	Fabry Disease [Disease/Finding]
Synonyms	Fabry Disease Fabry's Disease alpha-Galactosidase A Deficiency Ceramide Trihexosidase Deficiency alpha-Galactosidase A Deficiency Disease Hereditary Dystopic Lipidosis Angiokeratoma Corporis Diffusum Angiokeratoma, Diffuse Angiokeratoma Diffuse Anderson-Fabry Disease GLA Deficiency See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Fabry Disease Fabry's Disease alpha-Galactosidase A Deficiency Ceramide Trihexosidase Deficiency alpha-Galactosidase A Deficiency Disease Hereditary Dystopic Lipidosis Angiokeratoma Corporis Diffusum Angiokeratoma, Diffuse Angiokeratoma Diffuse Anderson-Fabry Disease GLA Deficiency See more See less
prefLabel	Fabry Disease [Disease/Finding]
notation	N0000000411
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000191223 http://purl.bioontology.org/ontology/NDFRT/N0000148806 http://purl.bioontology.org/ontology/NDFRT/N0000164286
MESH 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.
MESH UI	M0001191
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000011108
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
MeSH name	Fabry Disease
NDFRT kind	DISEASE_KIND
type	http://www.w3.org/2002/07/owl#Class
SNOMED CID	124464003 16652001
tui	T047
NUI	N0000000411
cui	C0002986
MESH DUI	D000795

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