Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3662340017 | Isolated cerebellar vermis hypoplasia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3662341018 | Isolated hypoplasia of cerebellar vermis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3662342013 | Isolated hypoplasia of cerebellar vermis (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
7867901000146117 | geïsoleerde hypoplasie van vermis cerebelli | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7867911000146115 | geïsoleerde hypoplasie van vermis cerebelli (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
7867921000146113 | geïsoleerde hypoplasie van worm van kleine hersenen | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
3662343015 | A rare non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3662344014 | A rare non-syndromic cerebellar malformation characterised by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioural disorders such as attention deficit hyperactivity disorder and generalised anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Isolated cerebellar vermis hypoplasia | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
Isolated cerebellar vermis hypoplasia | Finding site | Cerebellar vermis structure | true | Inferred relationship | Some | 1 | |
Isolated cerebellar vermis hypoplasia | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Isolated cerebellar vermis hypoplasia | Is a | Congenital cerebellar hypoplasia | true | Inferred relationship | Some | ||
Isolated cerebellar vermis hypoplasia | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets