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chronische diarree bij zuigeling door overactiviteit van guanylaatcyclase 2C (aandoening)
chronische diarree bij zuigeling door overactiviteit van guanylaatcyclase 2C
chronische infantiele diarree door overactiviteit van guanylaatcyclase 2C
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
A rare genetic intestinal disease with characteristics of early-onset chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease are frequently associated. There is evidence the disease is caused by heterozygous mutation in the GUCY2C gene on chromosome 12p12.
Id785727000
StatusPrimitive
Has interpretationgewijzigd
Interpretsdefecatiepatroon
Clinical coursechronisch
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