Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3443260018 | Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3443261019 | Severe congenital hypochromic anemia with ringed sideroblasts | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3443262014 | Severe congenital hypochromic anaemia with ringed sideroblasts | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3443263016 | Severe congenital hypochromic sideroblastic anemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3443264010 | Severe congenital hypochromic sideroblastic anaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6539151000146115 | ernstige congenitale hypochrome anemie met ringsideroblasten | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6539161000146117 | ernstige aangeboren hypochrome sideroblastische anemie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6539171000146111 | ernstige congenitale hypochrome anemie met ringsideroblasten (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3443265011 | A very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3443266012 | A very rare severe non-syndromic hypochromic anaemia, which is characterised by transfusion-dependent hypochromic, poorly regenerative anaemia, iron overload, resembling non-syndromic sideroblastic anaemia except for increased erythrocyte protoporphyrin levels. It has been reported in 3 siblings to date. Caused by a nonsense heterozygous mutation in the STEAP3/TSAP6 gene. Transmission is most likely recessive with a low expression allele. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Is a | Hereditary disease | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Is a | Sideroblastic anemia | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 2 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 3 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 3 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Is a | Hemoglobin below reference range (finding) | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Is a | Red blood cell count below reference range | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | Is a | hereditaire sideroblastische anemie | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR