Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5045220015 | Component of oligomeric golgi complex 6-congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045221016 | Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5045222011 | Congenital disorder of glycosylation type 2l | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5045223018 | COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5045224012 | Congenital disorder of glycosylation type IIL | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5045225013 | A rare congenital disorder of glycosylation with characteristics of neonatal onset of global developmental delay, hypotonia, failure to thrive, haematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis or cirrhosis) and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy and enlarged ventricles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5045226014 | A rare congenital disorder of glycosylation with characteristics of neonatal onset of global developmental delay, hypotonia, failure to thrive, hematological/immunological abnormalities, recurrent infections, liver involvement (with hepatosplenomegaly, cholestasis, fibrosis or cirrhosis) and enteropathy. Additional reported manifestations include dysmorphic craniofacial features (such as microcephaly, broad palpebral fissures, and retrognathia), hypohidrosis, hyperkeratosis and cardiac and musculoskeletal anomalies. Brain imaging may show hypoplastic corpus callosum, cerebral and cerebellar atrophy and enlarged ventricles. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | est un(e) (attribut) | Carbohydrate-deficient glycoprotein syndrome type II | true | Inferred relationship | Some | ||
| Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
Description inactivation indicator reference set
FHIR