Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2465504016 | Clinical manifestation of enzyme deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2471779019 | Clinical manifestation of enzyme deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Clinical manifestation of enzyme deficiency (disorder) | Is a | Metabolic disease | true | Inferred relationship | Some | ||
| Clinical manifestation of enzyme deficiency (disorder) | Due to | Enzymopathy | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Gyrate atrophy | Is a | True | Clinical manifestation of enzyme deficiency (disorder) | Inferred relationship | Some | |
| Clinical manifestation of carnosinase deficiency (disorder) | Is a | True | Clinical manifestation of enzyme deficiency (disorder) | Inferred relationship | Some | |
| Hyperimidodipeptiduria due to proline dipeptidase deficiency (disorder) | Is a | True | Clinical manifestation of enzyme deficiency (disorder) | Inferred relationship | Some | |
| Tyrosinemia type I (disorder) | Is a | True | Clinical manifestation of enzyme deficiency (disorder) | Inferred relationship | Some | |
| Histidinemia (disorder) | Is a | True | Clinical manifestation of enzyme deficiency (disorder) | Inferred relationship | Some | |
| Hydroxymethylglutaric aciduria (disorder) | Is a | True | Clinical manifestation of enzyme deficiency (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR