Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4674355015 | Severe autosomal recessive macrothrombocytopenia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4674356019 | Severe autosomal recessive macrothrombocytopenia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 13250061000146114 | ernstige autosomaal recessieve macrotrombocytopenie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250071000146115 | ernstige autosomaal recessieve macrotrombopenie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13250081000146118 | ernstige autosomaal recessieve macrotrombocytopenie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4674357011 | A rare isolated hereditary giant platelet disorder characterised by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous haematoma and menorrhagia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4674358018 | A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestations are recurrent bleeding episodes including epistaxis, spontaneous hematoma and menorrhagia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe autosomal recessive macrothrombocytopenia (disorder) | Is a | Giant platelet syndrome | true | Inferred relationship | Some | ||
| Severe autosomal recessive macrothrombocytopenia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Severe autosomal recessive macrothrombocytopenia (disorder) | Finding site | Body system structure | true | Inferred relationship | Some | 2 | |
| Severe autosomal recessive macrothrombocytopenia (disorder) | Interprets | Hemostatic function | true | Inferred relationship | Some | 1 | |
| Severe autosomal recessive macrothrombocytopenia (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 1 | |
| Severe autosomal recessive macrothrombocytopenia (disorder) | Is a | Hereditary platelet function disorder (disorder) | true | Inferred relationship | Some | ||
| Severe autosomal recessive macrothrombocytopenia (disorder) | Is a | Hereditary thrombocytopenic disorder (disorder) | true | Inferred relationship | Some | ||
| Severe autosomal recessive macrothrombocytopenia (disorder) | Interprets | Platelet count | true | Inferred relationship | Some | 3 | |
| Severe autosomal recessive macrothrombocytopenia (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR