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766709000: Isolated hypoplasia of cerebellar vermis (disorder)


Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3662340017 Isolated cerebellar vermis hypoplasia en Synonym Active Case insensitive SNOMED CT core
3662341018 Isolated hypoplasia of cerebellar vermis en Synonym Active Case insensitive SNOMED CT core
3662342013 Isolated hypoplasia of cerebellar vermis (disorder) en Fully specified name Active Case insensitive SNOMED CT core
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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Isolated cerebellar vermis hypoplasia Pathological process Pathological developmental process true Inferred relationship Some 1
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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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