Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jun 2025. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5460915016 | Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5460916015 | Polycystic liver disease-3 due to heterozygous mutation of ALG8 alpha-1,3-glucosyltransferase gene | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5460917012 | Polycystic liver disease-3 due to heterozygous mutation of ALG8 alpha-1,3-glucosyltransferase gene (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene | Is a | 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). | true | Inferred relationship | Some | ||
Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene | Finding site | Liver structure | true | Inferred relationship | Some | 1 | |
Polycystic liver disease-3 due to heterozygous mutation of ALG8 gene | Associated morphology | Polycystic change | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets