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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.
Id718631006
StatusPrimitive
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologybulla
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ80.3
TermCongenitale bulleuze ichthyosiforme erytrodermie
SNOMED CT to Orphanet simple map281139
SNOMED CT to ICD-10 extended map
TargetQ80.3
RuleTRUE
AdviceALWAYS Q80.3
CorrelationSNOMED CT source code to target map code correlation not specified