Status: current. Date: 31-Jan 2008
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2689500017 | Citrin deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2693127019 | Citrin deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2695692018 | Citrullinemia ll | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2696096011 | Citrullinaemia ll | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5285684019 | SLC25A13 related citrin deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5285685018 | Solute carrier family 25 member 13 related citrin 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 |
| Citrin deficiency (disorder) | Is a | Hereditary metabolic disease | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Citrin deficiency (disorder) | Is a | Disorder of the urea cycle metabolism | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Citrin deficiency (disorder) | Is a | Enzymopathy | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | ||
| Citrin deficiency (disorder) | Is a | Autosomal recessive hereditary disorder | true | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Neonatal intrahepatic cholestasis due to citrin deficiency (disorder) | Due to | True | Citrin deficiency (disorder) | Congenital syphilitic hepatomegaly | Congenital syphilitic hepatomegaly | 3 |
This concept is not in any reference sets
FHIR