| syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke beperking (aandoening) | | syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke beperking | | syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en verstandelijke handicap
syndroom van dentinogenesis imperfecta, kleine gestalte, gehoorverlies en mentale retardatie
| | Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome | | Syndrome with the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphism, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. |
| | Id | 721089006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 71267 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
