Status: current, Primitive. Date: 31-Jul 2015. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3078404018 | MEGDEL syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3078412014 | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 3078491018 | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3084102011 | A rare autosomal recessive inherited disorder caused by mutations in the SERAC1 gene. Multiple body systems are affected with manifestations including 3-methylglutaconic aciduria, deafness, encephalopathy and Leigh-like disease. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | Mitochondrial respiratory chain complexes disorder | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | Congenital sensorineural hearing loss | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | Developmental disorder | false | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Finding site | Structure of nervous system | true | Inferred relationship | Some | 1 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Finding site | Structure of auditory system | true | Inferred relationship | Some | 2 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | Is a | 3-Methylglutaconic aciduria type 4 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR