Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3723727016 | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3723728014 | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3723729018 | A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Cystic malformation of posterior fossa | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Finding site | Infratentorial brain structure | true | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Congenital cerebellar hypoplasia | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Refractory epilepsy | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 1 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Partial agenesis of corpus callosum | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Associated morphology | Congenital cavitation | false | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Finding site | Corpus callosum structure | false | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Associated morphology | Aplasia | false | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Associated morphology | Cystic dilatation | true | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Finding site | Corpus callosum part | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Associated morphology | Agenesis | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Queensland allied health clinical finding reference set
Queensland allied health indicator for intervention reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set