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 |
1012251000172118 | anémie sidéroblastique associée à GLRX5 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3320927016 | Adult-onset autosomal recessive sideroblastic anemia (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3320928014 | Adult-onset autosomal recessive sideroblastic anemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3320929018 | GLRX5 (glutaredoxin 5) related sideroblastic anemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3320930011 | GLRX5 (glutaredoxin 5) related sideroblastic anaemia | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3320931010 | Adult-onset autosomal recessive sideroblastic anaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
755431000241119 | anémie sidéroblastique autosomique récessive de l'adulte (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
877211000172112 | anémie sidéroblastique autosomique récessive de l'adulte | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3320932015 | A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3320933013 | A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anaemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anaemia with liver iron overload and type 2 diabetes. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Adult-onset autosomal recessive sideroblastic anemia (disorder) | est un(e) (attribut) | Sideroblastic anemia | true | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | est un(e) (attribut) | Hereditary red blood cell disorder (disorder) | true | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | survenue (attribut) | Adulthood (qualifier value) | false | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | localisation d'une constatation (attribut) | Erythrocyte | false | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | est défini par la manifestation de (attribut) | Erythropenia | false | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | est un(e) (attribut) | Hereditary disorder by system | false | Inferred relationship | Some | ||
Adult-onset autosomal recessive sideroblastic anemia (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | false | Inferred relationship | Some | 5 | |
Adult-onset autosomal recessive sideroblastic anemia (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | false | Inferred relationship | Some | 6 | |
Adult-onset autosomal recessive sideroblastic anemia (disorder) | interprète (attribut) | Measurement of total haemoglobin concentration | false | Inferred relationship | Some | 5 | |
Adult-onset autosomal recessive sideroblastic anemia (disorder) | interprète (attribut) | Red blood cell count | false | Inferred relationship | Some | 6 | |
Adult-onset autosomal recessive sideroblastic anemia (disorder) | localisation d'une constatation (attribut) | Erythrocyte | true | Inferred relationship | Some | 1 | |
Adult-onset autosomal recessive sideroblastic anemia (disorder) | survenue (attribut) | Adulthood (qualifier value) | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets