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 |
| 3438261019 | Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3438262014 | Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3438263016 | An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | localisation d'une constatation (attribut) | Cartilage structure (body structure) | true | Inferred relationship | Some | 3 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 3 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | est un(e) (attribut) | maladie métabolique de l'os | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | est un(e) (attribut) | D-2-hydroxyglutaric aciduria (disorder) | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | est un(e) (attribut) | Enchondromatosis | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | est un(e) (attribut) | Connective tissue hereditary disorder | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 5 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | localisation d'une constatation (attribut) | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 4 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | localisation d'une constatation (attribut) | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 5 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 6 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | localisation d'une constatation (attribut) | structure osseuse | false | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR