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 |
771521000241119 | syndrome d'agénésie partielle du corps calleux-hypoplasie du vermis avec kystes de la fosse postérieure (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 Common French translation module (core metadata concept) |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | Cystic malformation of posterior fossa (disorder) | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | localisation d'une constatation (attribut) | Infratentorial brain structure | true | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | Congenital cerebellar hypoplasia | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | épilepsie réfractaire | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | localisation d'une constatation (attribut) | Cerebellar vermis structure | true | Inferred relationship | Some | 1 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | morphologie associée (attribut) | Hypoplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | Partial agenesis of corpus callosum | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | survenue (attribut) | congénital | 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 | morphologie associée (attribut) | Congenital cavitation (morphologic abnormality) | false | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | survenue (attribut) | congénital | 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 | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | localisation d'une constatation (attribut) | Corpus callosum structure | false | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | morphologie associée (attribut) | Aplasia | false | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | morphologie associée (attribut) | Cystic dilatation | true | Inferred relationship | Some | 2 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | localisation d'une constatation (attribut) | Corpus callosum part | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | morphologie associée (attribut) | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets