Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2008. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2689500017 | Citrin deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
| 2693127019 | Citrin deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Citrin deficiency | Is a | Enzymopathy | false | Inferred relationship | Existential restriction modifier | ||
| Citrin deficiency | Is a | Disorder of the urea cycle metabolism | false | Inferred relationship | Existential restriction modifier | ||
| Citrin deficiency | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Citrin deficiency | Is a | Citrullinemia | true | Inferred relationship | Existential restriction modifier |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Citrullinemia type II | Is a | True | Citrin deficiency | Inferred relationship | Existential restriction modifier | |
| Neonatal intrahepatic cholestasis due to citrin deficiency | Due to | True | Citrin deficiency | Inferred relationship | Existential restriction modifier | 2 |
This concept is not in any reference sets
FHIR