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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| 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 |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000000411 |
|
| 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
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|
| cui |
C0002986
|
|
| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000191223 |
|
| 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 DUI |
D000795
|
|
| MeSH name |
Fabry Disease
|
|
| MESH UI |
M0001191
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000000411
|
|
| NUI |
N0000000411
|
|
| prefLabel |
Fabry Disease [Disease/Finding]
|
|
| SNOMED CID |
124464003 16652001
|
|
| tui |
T047
|
|
| subClassOf |
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