| 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 | | A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported. |
| | 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 |
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| 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 |
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