| 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
| | A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported. |
| | Id | 722392003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | P78.3 | | Term | Niet-infectieuze neonatale diarree |
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| SNOMED CT to Orphanet simple map | 83620 |
| SNOMED CT to ICD-10 extended map | | Target | P78.3 | | Rule | TRUE | | Advice | ALWAYS P78.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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