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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Congenital cerebellar ataxia due to RNU12 mutation

\Finding related to coordination / incoordination\Ataxia\...

\Hereditary ataxia\Congenital cerebellar ataxia due to RNU12 mutation

\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital cerebellar ataxia due to RNU12 mutation
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Congenital cerebellar ataxia due to RNU12 mutation
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital cerebellar ataxia due to RNU12 mutation

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNU12 mutation

Status: current, Primitive. 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 Active Initial character case insensitive SNOMED CT core

4643808018 Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core

4643809014 Congenital cerebellar ataxia due to RNU12 mutation en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cerebellar ataxia due to RNU12 mutation	Is a	Intellectual disability	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Is a	Hereditary ataxia	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNU12 mutation	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNU12 mutation	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNU12 mutation	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNU12 mutation	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNU12 mutation	Interprets	Intellectual ability	true	Inferred relationship	Some	2
Congenital cerebellar ataxia due to RNU12 mutation	Has interpretation	Impaired	true	Inferred relationship	Some	2
Congenital cerebellar ataxia due to RNU12 mutation	Interprets	Adaptation behaviour	true	Inferred relationship	Some	3
Congenital cerebellar ataxia due to RNU12 mutation	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

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Active

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Characteristic

Refinability

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Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4643807011	Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4643808018	Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4643809014	Congenital cerebellar ataxia due to RNU12 mutation	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core