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 |
3438287019 | Congenital disorder of glycosylation type 1e (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
3438288012 | Congenital disorder of glycosylation type 1e | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
3438289016 | Carbohydrate deficient glycoprotein syndrome type Ie | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
3438290013 | Dolichol-phosphate-mannose synthase 1 deficiency | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3438291012 | DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation | 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 1e | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
Congenital disorder of glycosylation type 1e | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Existential restriction modifier | ||
Congenital disorder of glycosylation type 1e | 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