Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2995217019 | CMAMMA - combined malonic and methylmalonic aciduria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2995400012 | Combined malonic and methylmalonic aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2995645019 | Combined malonic and methylmalonic aciduria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4594817012 | A rare inborn error of metabolism with characteristics of elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. The disease presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Combined malonic and methylmalonic aciduria | est un(e) (attribut) | Disorder of fatty acid metabolism | true | Inferred relationship | Some | ||
| Combined malonic and methylmalonic aciduria | est un(e) (attribut) | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Combined malonic and methylmalonic aciduria | est un(e) (attribut) | Malonic aciduria | false | Inferred relationship | Some | ||
| Combined malonic and methylmalonic aciduria | est un(e) (attribut) | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Combined malonic and methylmalonic aciduria | est un(e) (attribut) | Methylmalonic acidaemia | true | Inferred relationship | Some | ||
| Combined malonic and methylmalonic aciduria | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR