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 |
| 761231000241114 | anémie hypochrome congénitale sévère avec sidéroblastes en couronne (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 888971000172118 | anémie hypochrome congénitale sévère avec sidéroblastes en anneau | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 937311000172114 | anémie hypochrome congénitale sévère avec sidéroblastes en couronne | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation 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) | est un(e) (attribut) | Hemoglobin low | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | est un(e) (attribut) | numération des globules rouges basse (constatation) | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | est un(e) (attribut) | maladie héréditaire | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | est un(e) (attribut) | Sideroblastic anemia | true | Inferred relationship | Some | ||
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 2 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | interprète (attribut) | Red blood cell count | true | Inferred relationship | Some | 2 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 3 | |
| Severe congenital hypochromic anemia with ringed sideroblasts (disorder) | interprète (attribut) | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR