Status: current, Primitive. Date: 31-Jul 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5074098011 | Isolated cerebellar vermis agenesis | en | Synonym | Active | Case insensitive | SNOMED CT core |
5074099015 | Isolated agenesis of cerebellar vermis (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
5074100011 | Isolated agenesis of cerebellar vermis | en | Synonym | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Isolated agenesis of cerebellar vermis | Is a | Aplasia of the vermis | true | Inferred relationship | Some | ||
Isolated agenesis of cerebellar vermis | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Isolated agenesis of cerebellar vermis | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 1 | |
Isolated agenesis of cerebellar vermis | Associated morphology | Agenesis | true | Inferred relationship | Some | 1 | |
Isolated agenesis of cerebellar vermis | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Problem/Diagnosis reference set