| annulaire epidermolytische ichthyosis (aandoening) | | annulaire epidermolytische ichthyosis | | AEI
ringvormige epidermolytische ichtyose
| | Annular epidermolytic ichthyosis | | A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. |
| | Id | 718631006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q80.3 | | Term | Congenitale bulleuze ichthyosiforme erytrodermie |
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| SNOMED CT to Orphanet simple map | 281139 |
| SNOMED CT to ICD-10 extended map | | Target | Q80.3 | | Rule | TRUE | | Advice | ALWAYS Q80.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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