| otodentaal syndroom (aandoening) | | otodentaal syndroom | | otodentale dysplasie
| | Otodental syndrome | | Otodental dysplasia
| | 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. |
| | Id | 1237343009 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 2791 |
| SNOMED CT to ICD-10 extended map | | Target | K00.2 | | Rule | TRUE | | Advice | ALWAYS K00.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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