1177169004: Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection cérébelleuse\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\dysgénésie du cervelet\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4643807011	Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643808018	Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643809014	Congenital cerebellar ataxia due to RNU12 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4643810016	A rare hereditary ataxia with characteristics of delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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