Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3313726016 | Carbohydrate deficient glycoprotein syndrome type 2j | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313727013 | Carbohydrate deficient glycoprotein syndrome type IIj | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3313733016 | CDG2J - carbohydrate deficient glycoprotein syndrome type 2J | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324359011 | Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324360018 | Component of oligomeric golgi complex 4 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324361019 | COG4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324362014 | COG4 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3313734010 | An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the single reported case to date, seizures, some dysmorphic features, axial hypotonia, slight peripheral hypertonia and hyperreflexia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type II | true | Inferred relationship | Some | ||
| Component of oligomeric golgi complex 4 congenital disorder of glycosylation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR