autosomaal dominante epidermolysis bullosa simplex
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epidermolysis bullosa simplex met circinair migrerend erytheem (aandoening)
epidermolysis bullosa simplex met circinair migrerend erytheem
EBS-migr
epidermolysis bullosa simplex met circinair erythema migrans
Epidermolysis bullosa simplex with circinate migratory erythema
A basal subtype of epidermolysis bullosa simplex with manifestation of belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. Prevalence is unknown but 2 families have been reported to date. Onset of the disease is usually at birth. The lesions occur on the limbs and trunk and heal with brown pigmentation but no scarring. Extracutaneous involvement is absent. The disease is due to a specific mutation in the KRT5 (12q13.13) gene, encoding keratin 5. Transmission is autosomal dominant.
Id716700003
StatusPrimitive
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ81.0
TermEpidermolysis bullosa simplex
SNOMED CT to Orphanet simple map158681
SNOMED CT to ICD-10 extended map
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified