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Systematized Nomenclature of Medicine, International Version
Last uploaded:
August 28, 2024
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| Preferred Name | Fabry's disease | |
| Synonyms |
Ruiter-Pompen syndrome Ceramide lactoside lipidosis GLA deficiency Cardiovasorenal syndrome Thesaurismosis hereditaria Lactosyl ceramidosis Angiokeratoma corporis diffusum universale Anderson-Fabry disease Sweeley-Klionsky disease Ceramide trihexosidase deficiency Hereditary dystopic lipidosis alpha-Galactosidase-A deficiency Thesaurismosis lipoidica |
|
| ID |
http://purl.bioontology.org/ontology/SNMI/D6-74600 |
|
| altLabel |
Ruiter-Pompen syndrome Ceramide lactoside lipidosis GLA deficiency Cardiovasorenal syndrome Thesaurismosis hereditaria Lactosyl ceramidosis Angiokeratoma corporis diffusum universale Anderson-Fabry disease Sweeley-Klionsky disease Ceramide trihexosidase deficiency Hereditary dystopic lipidosis alpha-Galactosidase-A deficiency Thesaurismosis lipoidica
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|
| Associated with | ||
| cui |
C0002986
|
|
| notation |
D6-74600
|
|
| prefLabel |
Fabry's disease
|
|
| SIC |
272.7
|
|
| SMX |
(M-27000) (F-6A798)
|
|
| tui |
T047
|
|
| subClassOf |
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