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 |
| 5048441010 | 3-methylglutaconic aciduria type 8 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5048442015 | 3-methylglutaconic aciduria type 8 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5400002019 | A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5400003012 | A rare organic aciduria characterised by neonatal onset of hypotonia, recurrent apnoeic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy. | 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 8 | Is a | 3-Methylglutaconic aciduria | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 8 | Is a | Neonatal metabolic disorder (disorder) | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 8 | Is a | Genetic disease | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type 8 | Occurrence | Neonatal | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR