Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2013. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2922250016 | Congenital disorder of glycosylation type Ia (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2922256010 | Congenital disorder of glycosylation type Ia | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital disorder of glycosylation type Ia (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type Ia (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital disorder of glycosylation type Ia (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type Ia (disorder) | Due to | Deficiency of phosphomannomutase 2 (disorder) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR