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 |
| 3438287019 | Congenital disorder of glycosylation type 1e (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3438288012 | Congenital disorder of glycosylation type 1e | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3438289016 | Carbohydrate deficient glycoprotein syndrome type Ie | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3438290013 | Dolichol-phosphate-mannose synthase 1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3438291012 | DPM1-CDG - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3438292017 | Syndrome with characteristics of psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (in the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1. | 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 1e (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1e (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1e (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR