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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 rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.
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
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map158684
SNOMED CT to ICD-10 extended map
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