Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332319019 | X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332320013 | X-linked congenital dyserythropoietic anemia with thrombocytopenia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332321012 | X-linked congenital dyserythropoietic anaemia with thrombocytopenia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332322017 | A rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3332323010 | A rare haematological disorder, seen almost exclusively in males, characterised by moderate to severe thrombocytopenia with haemorrhages with or without the presence of mild to severe anaemia. The disease affects mainly males as females are usually asymptomatic or have only mild symptoms. It presents in infancy or in neonates (in severe cases) with patients bruising easily along with further manifestations of thrombocytopenia. The disease is caused by mutations in the GATA1 (Xp11.23) gene encoding GATA1, a transcriptional regulator involved in erythropoiesis and megakaryocytopoiesis. Different mutations found in this gene account for a variable phenotypic spectrum of disorders. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Due to | Decreased erythrocyte production | true | Inferred relationship | Some | 1 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Is a | Congenital dyserythropoietic anemia | true | Inferred relationship | Some | ||
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Is a | Hereditary thrombocytopenic disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 4 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Has definitional manifestation | Erythropenia | false | Inferred relationship | Some | ||
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 5 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Interprets | Platelet count | true | Inferred relationship | Some | 5 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Is a | Congenital thrombocytopenia (disorder) | true | Inferred relationship | Some | ||
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 3 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 2 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 7 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Interprets | Hemostatic function | true | Inferred relationship | Some | 7 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 7 | |
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR