Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3706585011 | SLC35A2-CDG - solute carrier family 35 member A2 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706586012 | Congenital disorder of glycosylation type 2m | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706587015 | Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706588013 | Congenital disorder of glycosylation type IIm | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706589017 | Solute carrier family 35 member A2 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3706590014 | CDG2M - congenital disorder of glycosylation type 2m | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3706591013 | A congenital disorder of glycosylation with characteristics of severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). Caused by hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11. | 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 A2 congenital disorder of glycosylation (disorder) | Is a | X-linked hereditary disease | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type II | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Is a | Metabolic encephalopathy | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Is a | Developmental and epileptic encephalopathy | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Solute carrier family 35 member A2 congenital disorder of glycosylation (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR