congenitale intestinale epitheliale dysplasie (aandoening)
congenitale intestinale epitheliale dysplasie
Intestinal epithelial dysplasia
Congenital epithelial dysplasia of intestine
Congenital tufting enteropathy
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.
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde congenitale misvormingen van darm
SNOMED CT to Orphanet simple map92050
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q43.8
CorrelationSNOMED CT source code to target map code correlation not specified