loading...| Preferred Name |
Fucosidosis |
|
| Synonyms |
Fucosidosis (disorder) Fucosidase deficiency |
|
| Definitions |
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/64716005 |
|
| Active |
1 |
|
| altLabel |
Fucosidosis (disorder) Alpha-L-fucosidase deficiency alpha-L-fucosidase deficiency Fucosidase deficiency |
|
| CASE SIGNIFICANCE ID |
900000000000020002 900000000000448009 900000000000017005 |
|
| CTV3ID |
C31y1 |
|
| cui |
C0016788 |
|
| definition |
Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20020131 |
|
| notation |
64716005 |
|
| Occurs in | ||
| prefLabel |
Fucosidosis |
|
| Subset member |
447562003~MAPRULE~TRUE 447562003~MAPTARGET~E77.1 447562003~MAPADVICE~ALWAYS E77.1 6011000124106~MAPTARGET~E77.1 6011000124106~MAPGROUP~1 900000000000508004~ACCEPTABILITYID~900000000000549004 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 900000000000497000~MAPTARGET~C31y1 6011000124106~MAPRULE~TRUE 900000000000509007~ACCEPTABILITYID~900000000000549004 6011000124106~MAPADVICE~ALWAYS E77.1 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
|
| subClassOf |