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