Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498702010 | RFT1-CDG (congenital disorder of glycosylation) | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3498703017 | RFT1-congenital disorder of glycosylation | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3498704011 | Congenital disorder of glycosylation type 1n (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| 3498705012 | Congenital disorder of glycosylation type 1n | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3498706013 | Carbohydrate deficient glycoprotein syndrome type In | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3498707016 | Congenital disorder of glycosylation type In | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 3498708014 | Man5GlcNAc2-dolichylpyrophosphate flippase deficiency | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital disorder of glycosylation type 1n | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Congenital disorder of glycosylation type 1n | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Existential restriction modifier | ||
| Congenital disorder of glycosylation type 1n | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR