syndroom van trichodysplasie met amelogenesis imperfecta (aandoening) | | syndroom van trichodysplasie met amelogenesis imperfecta | | trichodysplasie-amelogenesis imperfecta-syndroom
| | Trichodysplasia with amelogenesis imperfecta syndrome | | A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. |
| Id | 719911000 | 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 | 79129 |
SNOMED CT to ICD-10 extended map | Target | Q82.4 | Rule | TRUE | Advice | ALWAYS Q82.4 | 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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