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congenitale malabsorptieve diarree door tekort aan entero-endocriene cellen (aandoening)
congenitale malabsorptieve diarree door tekort aan entero-endocriene cellen
enterische anendocrinose
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
Enteric anendocrinosis
An exceedingly rare genetic gastroenterological disease characterized by severe malabsorption diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration and severe diarrhea unresponsive to various nutrients and formulas and require home parenteral nutrition. The syndrome is also associated with type 1 diabetes during childhood. This phenotype is caused by loss-of-function mutations in the NEUROG3 gene, coding for neurogenin 3, a protein implicated in endocrine enteric and pancreatic cell development.
Id722392003
StatusPrimitive
Clinical coursechronisch
Has interpretationgewijzigd
Interpretsdefecatiepatroon
referentieset met complexe 'mapping' naar ICD-10
TargetP78.3
RuleTRUE
AdviceALWAYS P78.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified