Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5074098011 | Isolated cerebellar vermis agenesis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5074099015 | Isolated agenesis of cerebellar vermis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5074100011 | Isolated agenesis of cerebellar vermis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5074105018 | A rare congenital cerebellar malformation disorder with characteristics of complete or partial cerebellar vermis agenesis with no other associated malformations or anomalies. Patients may be asymptomatic although psychomotor delay, hypotonia and incoordination are usually associated. Additional variable manifestations include intellectual disability, oculomotor abnormalities (such as nystagmus, impaired smooth pursuit, impaired saccades, strabismus, ptosis and oculomotor apraxia), retinopathy, abnormal visual evoked potentials, ataxia and delayed gait acquisition, along with delayed speech and language development. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Isolated agenesis of cerebellar vermis (disorder) | Is a | Aplasia of the vermis | true | Inferred relationship | Some | ||
Isolated agenesis of cerebellar vermis (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Isolated agenesis of cerebellar vermis (disorder) | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 1 | |
Isolated agenesis of cerebellar vermis (disorder) | Associated morphology | Agenesis (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Isolated agenesis of cerebellar vermis (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set