Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3303070010 | Low phospholipid associated cholelithiasis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303071014 | Low phospholipid associated cholelithiasis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3303072019 | Cholelithiasis with ABCB4 gene mutation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 747921000241116 | lithiase biliaire à faible niveau de phospholipides (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 905601000172119 | lithiase biliaire à faible niveau de phospholipides | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 970931000172115 | cholélithiase par mutation du gène ABCB4 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3303073012 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Low phospholipid associated cholelithiasis (disorder) | est un(e) (attribut) | calcul biliaire | true | Inferred relationship | Some | ||
| Low phospholipid associated cholelithiasis (disorder) | morphologie associée (attribut) | calcul | true | Inferred relationship | Some | 1 | |
| Low phospholipid associated cholelithiasis (disorder) | localisation d'une constatation (attribut) | structure des voies biliaires | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR