Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5048445018 | 3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048446017 | 3-methylglutaconic aciduria type 9 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048447014 | 3-methylglutaconic aciduria type 9 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048448016 | A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5048449012 | A rare organic aciduria characterised by early onset of global developmental delay with severe intellectual disability, seizures and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behaviour, optic atrophy or spasticity. Brain imaging may show generalised cerebral atrophy and white matter abnormalities. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3-methylglutaconic aciduria type 9 | est un(e) (attribut) | Global developmental delay | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 9 | est un(e) (attribut) | 3-Methylglutaconic aciduria | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 9 | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 9 | est un(e) (attribut) | déficience intellectuelle grave (trouble) | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 9 | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 9 | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR