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 |
| 3437393010 | Carbohydrate deficient glycoprotein syndrome type 1o (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437394016 | Carbohydrate deficient glycoprotein syndrome type 1o | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437395015 | Congenital disorder of glycosylation type 1o | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3437396019 | DPM3-CDG - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3437397011 | An extremely rare form of congenital disorder of glycosylation with clinical characteristics in the single reported case of muscle weakness, waddling gait and dilated cardiomyopathy. Caused by homozygous mutation in the DPM3 gene on chromosome 1q22. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10022871000172113 | syndrome des glycoprotéines déficientes en hydrates de carbone de type 1o | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10022881000172111 | syndrome des glycoprotéines déficientes en glucides de type 1o | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10022891000172114 | syndrome CDG (congenital disorders of glycosylation) de type 1o | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4547381000172117 | CDG-syndroom type Io | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4547391000172119 | congenitaal defect in glycosylering type Io | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Carbohydrate deficient glycoprotein syndrome type 1o (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Carbohydrate deficient glycoprotein syndrome type 1o (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Carbohydrate deficient glycoprotein syndrome type 1o (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