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chronische diarree door glucoamylasedeficiƫntie (aandoening)
chronische diarree door glucoamylasedeficiƫntie
Chronic diarrhea due to glucoamylase deficiency
Maltase glucoamylase deficiency
A rare intestinal disease characterized by impaired absorption of starch and short polymers of glucose due to primary small intestinal glucoamylase deficiency. Patients present in infancy or early childhood with chronic diarrhea, abdominal distention, and bloating. Levels of pancreatic amylase are typically normal, and histopathological analysis shows normal morphology of the intestinal mucosa.
Id716277000
StatusDefined
Clinical coursechronisch
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