loading...| Preferred Name |
Fabry's disease |
|
| Synonyms |
Ruiter-Pompen syndrome |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/16652001 |
|
| Active |
1 |
|
| altLabel |
Ruiter-Pompen syndrome Ceramide lactoside lipidosis GLA deficiency Alpha-galactosidase A deficiency Cardiovasorenal syndrome Thesaurismosis hereditaria Lactosyl ceramidosis Angiokeratoma corporis diffusum universale Fabry's disease (disorder) Anderson-Fabry disease Sweeley-Klionsky disease Ceramide trihexosidase deficiency Hereditary dystopic lipidosis alpha-Galactosidase-A deficiency Thesaurismosis lipoidica Fabry disease Angiokeratoma corporis diffusum |
|
| CASE SIGNIFICANCE ID |
900000000000448009 900000000000017005 |
|
| Cause of | ||
| CTV3ID |
X40VJ |
|
| cui |
C0002986 |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| Has associated morphology | ||
| Has finding site |
http://purl.bioontology.org/ontology/SNOMEDCT/28661005 http://purl.bioontology.org/ontology/SNOMEDCT/25087005 |
|
| notation |
16652001 |
|
| Occurs in | ||
| prefLabel |
Fabry's disease |
|
| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPADVICE~ALWAYS E75.2 900000000000497000~MAPTARGET~X40VJ 6011000124106~MAPGROUP~1 447562003~MAPTARGET~E75.2 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~ALWAYS E75.21 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPTARGET~E75.21 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/367591000119105 http://purl.bioontology.org/ontology/SNOMEDCT/10741005 http://purl.bioontology.org/ontology/SNOMEDCT/254788004 http://purl.bioontology.org/ontology/SNOMEDCT/128430005 http://purl.bioontology.org/ontology/SNOMEDCT/62914000 http://purl.bioontology.org/ontology/SNOMEDCT/363005004 http://purl.bioontology.org/ontology/SNOMEDCT/238028008 http://purl.bioontology.org/ontology/SNOMEDCT/128190004 |