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 |
| 3305550013 | Congenital amegakaryocytic thrombocytopenia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305551012 | Congenital amegakaryocytic thrombocytopenia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6202671000146114 | congenitale amegakaryocytaire trombocytopenie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6202681000146111 | congenitale amegakaryocytaire trombocytopenie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6202691000146113 | aangeboren amegakaryocytaire trombopenie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3305552017 | A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital amegakaryocytic thrombocytopenia (disorder) | Is a | Congenital disease (disorder) | false | Inferred relationship | Some | ||
| Congenital amegakaryocytic thrombocytopenia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital amegakaryocytic thrombocytopenia (disorder) | Is a | Amegakaryocytic thrombocytopenia | true | Inferred relationship | Some | ||
| Congenital amegakaryocytic thrombocytopenia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital amegakaryocytic thrombocytopenia (disorder) | Has definitional manifestation | Platelet count below reference range (finding) | false | Inferred relationship | Some | ||
| Congenital amegakaryocytic thrombocytopenia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Congenital amegakaryocytic thrombocytopenia (disorder) | Interprets | Platelet count | true | Inferred relationship | Some | 1 | |
| Congenital amegakaryocytic thrombocytopenia (disorder) | Is a | Congenital thrombocytopenia (disorder) | true | Inferred relationship | Some | ||
| Congenital amegakaryocytic thrombocytopenia (disorder) | Interprets | Hemostatic function | false | Inferred relationship | Some | 2 | |
| Congenital amegakaryocytic thrombocytopenia (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| Congenital amegakaryocytic thrombocytopenia (disorder) | Interprets | Hemostatic function | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR