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

SNOMED CT Concept\Clinical finding (finding)\...

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

\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)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\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 RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

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

\Finding of brain\Disorder of brain (disorder)\...

\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

\Disorder of head (disorder)\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 RNA, U12 small nuclear mutation (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Congenital hypoplasia of part of brain\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)

\Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Developmental hereditary disorder\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (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 RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (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 RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of head (disorder)\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\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\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Congenital cerebellar hypoplasia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\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 RNA, U12 small nuclear mutation (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\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

10757851000172119 ataxie cérébelleuse congénitale due à une mutation du petit ARN nucléaire U12 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10757861000172117 ataxie cérébelleuse congénitale due à une mutation de RNU12 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7574191000172117 congenitale cerebellaire ataxie door mutatie van snRNA U12 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7574201000172119 congenitale cerebellaire ataxie door RNU12-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7574211000172116 congenitale cerebellaire ataxie door mutatie van klein nucleair RNA U12 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Is a	Congenital cerebellar hypoplasia	true	Inferred relationship	Some
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Associated morphology	Hypoplasia	true	Inferred relationship	Some	1
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	2
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
10757851000172119	ataxie cérébelleuse congénitale due à une mutation du petit ARN nucléaire U12	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10757861000172117	ataxie cérébelleuse congénitale due à une mutation de RNU12	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7574191000172117	congenitale cerebellaire ataxie door mutatie van snRNA U12	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7574201000172119	congenitale cerebellaire ataxie door RNU12-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7574211000172116	congenitale cerebellaire ataxie door mutatie van klein nucleair RNA U12	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)