Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304104013 | Multiple endocrine neoplasia type 4 (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3304105014 | Multiple endocrine neoplasia type 4 | en | Synonym | Active | Case insensitive | SNOMED CT core |
3304106010 | MEN (multiple endocrine neoplasia) 4 syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3304107018 | A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
3304108011 | A very rare form of multiple endocrine neoplasia, an inherited cancer syndrome, with parathyroid and anterior pituitary tumours, possibly associated with adrenal, renal, and reproductive organ tumours. Caused by heterozygous inactivating mutations in the CDKN1B gene (12p13.1-p12) encoding p27, a cyclin-dependent kinase inhibitor that acts as a negative regulator of cell cycle progression. Most cases are the result of autosomal dominant inheritance. Some cases of sporadic de novo occurrence are however reported. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Multiple endocrine neoplasia type 4 | Is a | Polyglandular activity in multiple endocrine adenomatosis | true | Inferred relationship | Some | ||
Multiple endocrine neoplasia type 4 | Associated morphology | Multiple endocrine adenomas | true | Inferred relationship | Some | 1 | |
Multiple endocrine neoplasia type 4 | Finding site | Structure of multiple endocrine glands | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Neoplasm and/or hamartoma reference set
Problem/Diagnosis reference set