atresie van pylorus	autosomaal recessieve epidermolysis bullosa simplex	hereditaire aandoening van spijsverteringsstelsel
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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.

Id	716701004
Status	Primitive

Associated morphology	atresie
Finding site	structuur van pylorus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	epidermolyse
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q81.0
Term	Epidermolysis bullosa simplex

Target	Q40.2
Term	Overige gespecificeerde congenitale misvormingen van maag

SNOMED CT to Orphanet simple map

158684

SNOMED CT to ICD-10 extended map

Target	Q81.0
Rule	TRUE
Advice	ALWAYS Q81.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q40.2
Rule	TRUE
Advice	ALWAYS Q40.2
Correlation	SNOMED CT source code to target map code correlation not specified