cholelithiase bij laag gehalte aan fosfolipiden (aandoening)
cholelithiase bij laag gehalte aan fosfolipiden
cholelithiasis bij laag gehalte aan fosfolipiden
Low phospholipid associated cholelithiasis
Cholelithiasis with ABCB4 gene mutation
The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity.
Associated morphologyconcrement
Finding sitestructuur van galwegen
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS K80.8
CorrelationSNOMED CT source code to target map code correlation not specified