autosomaal recessieve epidermolysis bullosa simplex
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epidermolysis bullosa simplex door plakophilinedeficiëntie (aandoening)
epidermolysis bullosa simplex door plakophilinedeficiëntie
Epidermolysis bullosa simplex due to plakophilin deficiency
McGrath syndrome
Ectodermal dysplasia skin fragility syndrome
A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive.
Id716699004
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 map158668
SNOMED CT to ICD-10 extended map
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified