Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3322700017 | Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322725014 | Asparagine-linked glycosylation 3 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322726010 | ALG3 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322727018 | Carbohydrate deficient glycoprotein syndrome type Id | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322728011 | Congenital disorder of glycosylation type 1d | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322729015 | Congenital disorder of glycosylation type Id | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322730013 | Mannosyltransferase 6 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322751011 | ALG3-CDG - asparagine-linked glycosylation 3 congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322731012 | A form of congenital disorders of N-linked glycosylation with characteristics of severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita, vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). Caused by loss-of-function mutations of the gene ALG3 (3q27.3). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Asparagine-linked glycosylation 3 congenital disorder of glycosylation (disorder) | Is a | Carbohydrate-deficient glycoprotein syndrome type I | true | Inferred relationship | Some | ||
| Asparagine-linked glycosylation 3 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