Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 204943016 | Deficiency of methylmalonyl-CoA mutase | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 2970811019 | Deficiency of methylmalonyl-coenzyme A mutase (disorder) | en | Fully specified name | Active | Initial character case insensitive | SNOMED CT core |
| 2971533019 | Deficiency of methylmalonyl-coenzyme A mutase | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deficiency of methylmalonyl-CoA mutase | Is a | Specific enzyme deficiency | true | Inferred relationship | Some | ||
| Deficiency of methylmalonyl-CoA mutase | Is a | Disorder of propionate AND/OR methylmalonate metabolism | true | Inferred relationship | Some | ||
| Deficiency of methylmalonyl-CoA mutase | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Deficiency of methylmalonyl-CoA mutase | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Deficiency of methylmalonyl-CoA mutase | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deficiency of methylmalonyl-CoA mutase | Finding site | Body system structure | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Complete deficiency of methylmalonyl-CoA mutase | Is a | True | Deficiency of methylmalonyl-CoA mutase | Inferred relationship | Some | |
| Partial deficiency of methylmalonyl-CoA mutase | Is a | True | Deficiency of methylmalonyl-CoA mutase | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR