| syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie (aandoening) | | syndroom van ectodermale dysplasie, ectrodactylie en maculadystrofie | | EEM-syndroom
| | Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome | | EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome
EEM syndrome
| | Syndrome with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). |
| | Id | 720856002 | | 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 | 1897 |
| 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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