Status: current. Date: 31-Jul 2016
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305052010 | Isolated polycystic liver disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305053017 | Isolated polycystic liver disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305054011 | A genetic disorder with characteristics of the appearance of numerous cysts spread throughout the liver. Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) some patients are asymptomatic. Liver function is usually normal. There is no portal hypertension. Extrahepatic manifestations are very rare and may include intracranial aneurysms (usually small sized and at a low risk of rupture) and mitral leaflet abnormalities. Liver cysts result from overgrowth of biliary epithelium or from dilatation of peribiliary glands. Some cases occur sporadically, but most are inherited as an autosomal dominant trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401259019 | Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401260012 | Isolated polycystic liver disease (PCLD) is a genetic disorder characterised by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5460914017 | Autosomal dominant polycystic liver disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Isolated polycystic liver disease (disorder) | Is a | Genetic disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Isolated polycystic liver disease (disorder) | Is a | Liver cyst | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Isolated polycystic liver disease (disorder) | Associated morphology | Polycystic change | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 | |
| Isolated polycystic liver disease (disorder) | Finding site | Liver structure | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene | Is a | True | Isolated polycystic liver disease (disorder) | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly |
This concept is not in any reference sets
FHIR