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congenitale intestinale epitheliale dysplasie (aandoening)
congenitale intestinale epitheliale dysplasie
Intestinal epithelial dysplasia
Tufting enteropathy
Congenital epithelial dysplasia of intestine
Congenital tufting enteropathy
A congenital enteropathy presenting with early-onset severe intractable diarrhea sometimes causing irreversible intestinal failure. Infants develop a watery diarrhea within the first days after birth and the diarrhea persists in spite of bowel rest and parenteral nutrition. Some infants are reported to have associated choanal, rectal or esophageal atresia. Autosomal recessive transmission but the causative gene has not been yet identified.
Id715669000
StatusPrimitive
Associated morphologyepitheliale dysplasie
Finding sitestructuur van mucosa van jejunum
Occurrencecongenitaal
referentieset met complexe 'mapping' naar ICD-10
TargetQ43.8
RuleTRUE
AdviceALWAYS Q43.8
CorrelationSNOMED CT source code to target map code correlation not specified