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766709000: geïsoleerde hypoplasie van vermis cerebelli (aandoening)


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


0 descendants.

Expanded Value Set


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

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