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 |
| 6322971000146117 | metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6322981000146115 | metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie (aandoening) | nl | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Metabolic bone disease | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Is a | D-2(OH) glutaric aciduria | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Is a | Enchondromatosis | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Finding site | Structure of endocrine system (body structure) | true | Inferred relationship | Some | 4 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 5 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 6 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Finding site | Bone structure | false | Inferred relationship | Some | 6 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Associated morphology | congenitale dysplasie (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Finding site | Bone structure | 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) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Finding site | Cartilage structure (body structure) | true | Inferred relationship | Some | 3 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Occurrence | Congenital | 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) | Associated morphology | Dysplasia | true | Inferred relationship | Some | 3 | |
| Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR