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 |
| 3330810015 | Overhydrated hereditary stomatocytosis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330811016 | Overhydrated hereditary stomatocytosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330812011 | A disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with hemolytic anemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of hemolytic anemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330813018 | A disorder of red cell membrane permeability to monovalent cations and is characterised clinically by haemolytic anaemia. Very rare with only seven cases described in the literature so far. Onset occurs during the neonatal period or infancy with haemolytic anaemia that may require occasional blood transfusions. Splenomegaly or hepatosplenomegaly are present. The disease course is marked by the usual complications of haemolytic anaemia (biliary lithiasis) and, remarkably, by a strong tendency for iron overload. In the majority of cases, the disease it caused by mutations in the RHAG gene (6p21-qter) encoding the Rh-associated glycoprotein component of the Rh complex. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Overhydrated hereditary stomatocytosis (disorder) | Associated morphology | Stomatocyte | true | Inferred relationship | Some | 2 | |
| Overhydrated hereditary stomatocytosis (disorder) | Is a | Hereditary stomatocytosis | false | Inferred relationship | Some | ||
| Overhydrated hereditary stomatocytosis (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 1 | |
| Overhydrated hereditary stomatocytosis (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 4 | |
| Overhydrated hereditary stomatocytosis (disorder) | Interprets | Red blood cell count | false | Inferred relationship | Some | 4 | |
| Overhydrated hereditary stomatocytosis (disorder) | Has interpretation | Below reference range | false | Inferred relationship | Some | 5 | |
| Overhydrated hereditary stomatocytosis (disorder) | Interprets | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 5 | |
| Overhydrated hereditary stomatocytosis (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Overhydrated hereditary stomatocytosis (disorder) | Is a | Erythrocyte enzyme deficiency | true | Inferred relationship | Some | ||
| Overhydrated hereditary stomatocytosis (disorder) | Is a | Stomatocytosis | true | Inferred relationship | Some | ||
| Overhydrated hereditary stomatocytosis (disorder) | Is a | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR