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 |
| 5401305019 | An isolated constitutional thrombocytopenia characterized by 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401306018 | An isolated constitutional thrombocytopenia characterised by 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. | 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 |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR