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 |
| 3425313015 | Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425314014 | Solute carrier family 35 member A1 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425315010 | SLC35A1 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425316011 | CMP-sialic acid transporter deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425317019 | Carbohydrate deficient glycoprotein syndrome type IIf | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425318012 | Congenital disorder of glycosylation type 2f | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3425319016 | Congenital disorder of glycosylation type IIf | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3425322019 | SLC35A1 (solute carrier family 35 member A1) congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425320010 | An extremely rare form of carbohydrate deficient glycoprotein syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3425321014 | An extremely rare form of carbohydrate deficient glycoprotein syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) | Is a | Disorder of pyrimidine metabolism | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A1 congenital disorder of glycosylation (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A1 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