Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3723728014 | Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 913941000172110 | syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
| 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 (disorder) | 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 (body 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 (disorder) | 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 (attribute) | 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 (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | Pathological process (attribute) | 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 (morphologic abnormality) | 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 (morphologic abnormality) | 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 |
This concept is not in any reference sets
FHIR