Link to this page
SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/1237343009
http://purl.bioontology.org/ontology/SNOMEDCT/1237343009
|
|---|---|
| Preferred Name | Otodental syndrome |
| Definitions |
A very rare inherited condition with characteristics of grossly enlarged canine and molar teeth (globodontia) associated with bilateral sensorineural high-frequency hearing deficit with an age of onset that varies from early childhood to middle age. Variable facial dysmorphism has also been reported. Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. The condition appears to be inherited in an autosomal dominant manner with complete to variable penetrance and variable expressivity.
Otodental syndrome is a very rare inherited condition characterised by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.
|
| Synonyms |
Otodental dysplasia
Otodental syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A very rare inherited condition with characteristics of grossly enlarged canine and molar teeth (globodontia) associated with bilateral sensorineural high-frequency hearing deficit with an age of onset that varies from early childhood to middle age. Variable facial dysmorphism has also been reported. Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. The condition appears to be inherited in an autosomal dominant manner with complete to variable penetrance and variable expressivity. Otodental syndrome is a very rare inherited condition characterised by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. |
|---|---|
| altLabel |
Otodental dysplasia
Otodental syndrome (disorder)
|
| prefLabel | Otodental syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 1237343009
|
| Effective time | 20220930
|
| Active | 1
|
| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf |
See more
See less
|
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS K00.2
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
6011000124106~MAPTARGET~K00.2
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
447562003~MAPTARGET~K00.2
6011000124106~MAPADVICE~ALWAYS H90.3
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~H90.3
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XVJ3H
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPADVICE~ALWAYS K00.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
See more
See less
|
| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XVJ3H
|
| cui | C1833693
|
| Has associated morphology |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |