Status: current. Date: 31-Jul 2021
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4570355010 | Progressive familial intrahepatic cholestasis type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4570356011 | Progressive familial intrahepatic cholestasis type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4570360014 | PFIC2 - progressive familial intrahepatic cholestasis type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4570361013 | BSEP (bile salt export pump) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4570362018 | A type of progressive familial intrahepatic cholestasis, this disease is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Onset occurs in the neonatal period. Clinical signs of cholestasis usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. Patients usually develop fibrosis and end-stage liver disease before adulthood. PFIC2 is due to mutations in the ABCB11 gene (2q24) encoding the bile salt export pump (BSEP) protein resulting in impaired biliary bile acid secretion which leads to decreased bile flow and bile salt accumulation in hepatocytes with ongoing severe hepatocellular damage. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Progressive familial intrahepatic cholestasis type 2 (disorder) | Is a | Cholestasis in newborn (disorder) | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Progressive familial intrahepatic cholestasis type 2 (disorder) | Is a | Progressive intrahepatic cholestasis | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Progressive familial intrahepatic cholestasis type 2 (disorder) | Occurrence | Neonatal | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Progressive familial intrahepatic cholestasis type 2 (disorder) | Finding site | Intrahepatic biliary tract structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Progressive familial intrahepatic cholestasis type 2 (disorder) | Clinical course | Progressive | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR