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 |
| 3499453016 | Congenital disorder of glycosylation type Is | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3499454010 | ALG13-CDG (congenital disorder of glycosylation) | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3499455011 | Congenital disorder of glycosylation type 1s | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499456012 | Congenital disorder of glycosylation type 1s (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499998015 | A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3499999011 | A form of congenital disorders of N-linked glycosylation characterised by microcephaly, hepatomegaly, oedema of the extremities, intractable seizures and recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23). | 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 1s | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1s | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1s | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital disorder of glycosylation type 1s | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR