| chronische diarree door glucoamylasedeficiëntie (aandoening) | | chronische diarree door glucoamylasedeficiëntie | | Chronic diarrhea due to glucoamylase deficiency | | Maltase glucoamylase deficiency
| | This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency. The prevalence is unknown. Patients with chronic diarrhea and glucoamylase deficiency may also display other disaccharidase deficiencies (sucrase, and lactase) and signs of small intestinal mucosal injury (secondary glucoamylase deficiency). No causative mutations in the maltase-glucoamylase gene have been identified so far. Patients generally respond to a starch-free diet. |
| | DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E74.3 | | Term | Overige stoornissen van intestinale koolhydraatabsorptie |
| Target | K52.9 | | Term | Niet-infectieuze gastro-enteritis en colitis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 103907 |
| SNOMED CT to ICD-10 extended map | | Target | E74.3 | | Rule | TRUE | | Advice | ALWAYS E74.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | K52.9 | | Rule | TRUE | | Advice | ALWAYS K52.9 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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