Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3078404018 | MEGDEL syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3078412014 | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3078491018 | 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| 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. | Is a | 3-Methylglutaconic aciduria type 4 | true | Inferred relationship | Some | ||
| 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. | Is a | Disorder of mitochondrial respiratory chain complexes | true | Inferred relationship | Some | ||
| 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. | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| 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. | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| 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. | Is a | Developmental disorder | false | Inferred relationship | Some | ||
| 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. | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| 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. | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| 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. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| 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. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| 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. | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| 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. | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| 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. | 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