Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5277068012 | Methylmalonate semialdehyde dehydrogenase deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5277069016 | MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5277070015 | Methylmalonate semialdehyde dehydrogenase deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Methylmalonate semialdehyde dehydrogenase deficiency | Is a | Specific enzyme deficiency | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) | Due to | True | Methylmalonate semialdehyde dehydrogenase deficiency | Inferred relationship | Some | 2 |
Reference Sets
FHIR