Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3723693015 | Hereditary cryohydrocytosis with normal stomatin (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723694014 | Hereditary cryohydrocytosis with normal stomatin | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6360451000146114 | hereditaire cryohydrocytose met normaal stomatine | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6360461000146112 | hereditaire cryohydrocytose met normaal stomatine (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6360471000146118 | erfelijke cryohydrocytose met niet-afwijkend stomatine | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3723695010 | A rare hereditary haemolytic anaemia due to a red cell membrane anomaly characterised by fatigue, mild anaemia and pseudohyperkalaemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3723696011 | A rare hereditary hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. There is evidence this disease is caused by heterozygous mutation in the SLC4A1 gene on chromosome 17q21. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Associated morphology | Stomatocyte | true | Inferred relationship | Some | 3 | |
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 1 | |
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Is a | Hereditary stomatocytosis | true | Inferred relationship | Some | ||
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 4 | |
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Hereditary cryohydrocytosis with normal stomatin (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR