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 |
| 3498784013 | Signal sequence receptor subunit 4 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498785014 | Congenital disorder of glycosylation type Iy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3498786010 | SSR4-CDG - signal sequence receptor subunit 4 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3498787018 | Congenital disorder of glycosylation type 1y | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3498788011 | Carbohydrate deficient glycoprotein syndrome type Iy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3498789015 | Congenital disorder of glycosylation type 1y (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3499983017 | A form of congenital disorders of N-linked glycosylation with characteristics of neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 10701251000172115 | syndrome des glycoprotéines déficientes en hydrates de carbone de type Iy | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10701261000172118 | CDG1Y (congenital disorder of glycosylation, type 1y) | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 10701271000172110 | anomalie congénitale de la glycosylation de type 1y | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4160421000172113 | SSR4-CDG | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4160431000172111 | CDG-1y | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4160441000172116 | aangeboren defect in glycosylering type Iy | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4160451000172119 | CDG-syndroom type Iy | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4160461000172117 | congenitaal defect in glycosylering type 1y | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4160471000172114 | koolhydraatdeficiënt glycoproteïne-syndroom type 1y | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital disorder of glycosylation type 1y | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1y | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Congenital disorder of glycosylation type 1y | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital disorder of glycosylation type 1y | 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