Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 477703016 | Malonic aciduria | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 743244019 | Malonic aciduria (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5314323015 | MLYCD-gene related malonic aciduria | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4594816015 | A rare metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). This condition usually presents in early childhood and the manifestations are variable. The disease is caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, chromosome 16q24) and is inherited as an autosomal recessive trait. The MCD enzyme is involved in the degradation of malonyl-CoA and it appears that inhibition of fatty acid synthesis as a result of malonyl-CoA accumulation is responsible for at least some of the clinical manifestations of the disorder. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Malonic aciduria | Is a | Disorder of fatty acid metabolism | true | Inferred relationship | Some | ||
| Malonic aciduria | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Malonic aciduria | Finding site | Body system structure | false | Inferred relationship | Some | ||
| Malonic aciduria | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Malonic aciduria | Due to | Deficiency of malonyl-CoA decarboxylase | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Combined malonic and methylmalonic aciduria | Is a | False | Malonic aciduria | Inferred relationship | Some |
This concept is not in any reference sets
FHIR