Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
| 5045221016 | Component of oligomeric golgi complex 6-congenital disorder of glycosylation (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5045222011 | Congenital disorder of glycosylation type 2l | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 5045223018 | COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5045224012 | Congenital disorder of glycosylation type IIL | en | Synonym | Active | Initial character case insensitive | 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 | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | Is a | Carbohydrate-deficient glycoprotein syndrome type II | true | Inferred relationship | Some | ||
| COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| COG6-CGD - component of oligomeric golgi complex 6-congenital disorder of glycosylation | Finding site | Structure of nervous system | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR