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chronische diarree door glucoamylasedeficiƫntie (aandoening)
chronische diarree door glucoamylasedeficiƫntie
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.
Id716277000
StatusDefined
Clinical coursechronisch
Has interpretationgewijzigd
Interpretsdefecatiepatroon
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE74.3
TermOverige stoornissen van intestinale koolhydraatabsorptie
TargetK52.9
TermNiet-infectieuze gastro-enteritis en colitis, niet gespecificeerd
SNOMED CT to Orphanet simple map103907
SNOMED CT to ICD-10 extended map
TargetE74.3
RuleTRUE
AdviceALWAYS E74.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK52.9
RuleTRUE
AdviceALWAYS K52.9
CorrelationSNOMED CT source code to target map code correlation not specified