| blefarocheilodontisch syndroom (aandoening) | | blefarocheilodontisch syndroom | | BCD-syndroom
Elsching-syndroom
syndroom van Elsching
syndroom van schisis, ectropion en conische tanden
blefaro-cheilo-odontisch syndroom
| | Blepharocheilodontic syndrome | | Blepharo-cheilo-odontic syndrome
Elsching syndrome
Clefting, ectropion, conical teeth syndrome
| | An ectodermal dysplasia syndrome with the association of abnormalities of the eyelids, lips, and teeth. These anomalies include lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly. Prevalence is unknown. Over 50 cases have been described in literature to date. Transmission is autosomal dominant with 100% penetrance. |
| | Id | 717911008 | | 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 | 1997 |
| 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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