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epidermolysis bullosa simplex gelijktijdig met pylorusatresie (aandoening)
epidermolysis bullosa simplex gelijktijdig met pylorusatresie
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex co-occurrent with pyloric atresia
A basal subtype of epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. Prevalence is unknown, but at least 12 families have been reported to date. Onset is at birth and babies are usually born prematurely with a low weight and poor general condition. Most cases are due to mutations in the PLEC gene (8q24) encoding the plectin 1 protein. Transmission is autosomal recessive.
Id716701004
StatusPrimitive
Associated morphologyatresie
Finding sitestructuur van pylorus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyepidermolyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ40.2
RuleTRUE
AdviceALWAYS Q40.2
CorrelationSNOMED CT source code to target map code correlation not specified