Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498772011 | STT3A-CDG (congenital disorder of glycosylation) | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498773018 | Congenital disorder of glycosylation type 1w (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3498774012 | Congenital disorder of glycosylation type Iw | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3498775013 | Congenital disorder of glycosylation type 1w | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3499979017 | A form of congenital disorders of N-linked glycosylation with characteristics of developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. Caused by mutations in the gene STT3A (11q23.3). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital disorder of glycosylation type 1w (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1w (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1w (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