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

SNOMED CT Concept\Clinical finding\...

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

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

\Hereditary ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation

\Cerebellar ataxia\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation

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

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

\Finding of brain\Disorder of brain\...

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

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

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation

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

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

Descriptions:

Id Description Lang Type Status Case? Module

4643807011 Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

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

4643809014 Congenital cerebellar ataxia due to RNU12 mutation en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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