loading...| Preferred Name |
Fabry disease |
| Definitions |
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin calle |
| ID |
http://purl.bioontology.org/ontology/LNC/LA14036-0 |
| Answer code |
GLA |
| Answer list OID |
1.3.6.1.4.1.12009.10.1.3266 1.3.6.1.4.1.12009.10.1.3274 1.3.6.1.4.1.12009.10.1.212 |
| Answer to |
http://purl.bioontology.org/ontology/LNC/57719-7 http://purl.bioontology.org/ontology/LNC/57720-5 |
| cui |
C0002986 |
| definition |
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin calle |
| Externally defined |
N |
| notation |
LA14036-0 |
| prefLabel |
Fabry disease |
| tui |
T047 |