| 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. |
| | Id | 715577009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | K80.8 | | Term | Overige cholelithiasis |
|
| SNOMED CT to Orphanet simple map | 69663 |
| SNOMED CT to ICD-10 extended map | | Target | K80.8 | | Rule | TRUE | | Advice | ALWAYS K80.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
