Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
353012 | Familial erythrocytosis due to diphosphoglycerate mutase deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
731107016 | Familial erythrocytosis due to diphosphoglycerate mutase deficiency (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Is a | Familial erythrocytosis | true | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Is a | Congenital anomaly of the haematopoietic system | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Is a | Enzymopathy | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Associated etiologic finding | Deficiency of bisphosphoglycerate mutase | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Finding site | Haematopoietic system structure | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Due to | Deficiency of bisphosphoglycerate mutase | true | Inferred relationship | Some | 2 | |
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Has definitional manifestation | RBC count raised | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Finding site | Haematopoietic system structure | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Finding site | Erythrocyte | true | Inferred relationship | Some | 3 | |
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Occurrence | Congenital | false | Inferred relationship | Some | ||
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Interprets | Red blood cell count | true | Inferred relationship | Some | 1 | |
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Has interpretation | Above reference range | true | Inferred relationship | Some | 1 | |
Familial erythrocytosis due to diphosphoglycerate mutase deficiency | Interprets | Haematology procedure | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set