Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
| 2471779019 | Clinical manifestation of enzyme deficiency | en | Synonym | Active | Case insensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Clinical manifestation of enzyme deficiency | Is a | Metabolic disease | true | Inferred relationship | Some | ||
| Clinical manifestation of enzyme deficiency | 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 | Inferred relationship | Some | |
| Clinical manifestation of carnosinase deficiency | Is a | True | Clinical manifestation of enzyme deficiency | Inferred relationship | Some | |
| Hyperimidodipeptiduria | Is a | True | Clinical manifestation of enzyme deficiency | Inferred relationship | Some | |
| Tyrosinaemia type I | Is a | True | Clinical manifestation of enzyme deficiency | Inferred relationship | Some | |
| Histidinaemia | Is a | True | Clinical manifestation of enzyme deficiency | Inferred relationship | Some | |
| Hydroxymethylglutaric aciduria | Is a | True | Clinical manifestation of enzyme deficiency | Inferred relationship | Some |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR