785300001: Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder)

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

\Finding related to coordination / incoordination (finding)\Ataxia\...

\Hereditary ataxia (disorder)\Infantile-onset autosomal recessive non progressive cerebellar ataxia

\Cerebellar ataxia\Infantile-onset autosomal recessive non progressive cerebellar ataxia

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Infantile-onset autosomal recessive non progressive cerebellar ataxia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Infantile-onset autosomal recessive non progressive cerebellar ataxia

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

\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Infantile-onset autosomal recessive non progressive cerebellar ataxia

\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Infantile-onset autosomal recessive non progressive cerebellar ataxia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Infantile-onset autosomal recessive non progressive cerebellar ataxia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile-onset autosomal recessive non progressive cerebellar ataxia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Infantile-onset autosomal recessive non progressive cerebellar ataxia
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Infantile-onset autosomal recessive non progressive cerebellar ataxia
\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\Infantile-onset autosomal recessive non progressive cerebellar ataxia
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Infantile-onset autosomal recessive non progressive cerebellar ataxia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3766832016 SCAR6 - autosomal recessive spinocerebellar ataxia type 6 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3766833014 Infantile-onset autosomal recessive non progressive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3766834015 Autosomal recessive spinocerebellar ataxia type 6 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3766835019 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3766836018 Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3766837010 A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

12717261000172117 ataxie cérébelleuse autosomique récessive non progressive à début infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12717271000172114 SCAR6 - ataxie spinocérébelleuse autosomique récessive de type 6 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

12717281000172112 ataxie spinocérébelleuse autosomique récessive de type 6 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4612551000172116 autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4612561000172119 SCAR6 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4612571000172111 autosomaal recessieve spinocerebellaire ataxie type 6 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Is a	Hereditary ataxia (disorder)	true	Inferred relationship	Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Occurrence	Infancy	true	Inferred relationship	Some	1
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Is a	Cerebellar ataxia	true	Inferred relationship	Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Infantile-onset autosomal recessive non progressive cerebellar ataxia	Clinical course	Non-progressive	true	Inferred relationship	Some	2

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
3766832016	SCAR6 - autosomal recessive spinocerebellar ataxia type 6	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3766833014	Infantile-onset autosomal recessive non progressive cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766834015	Autosomal recessive spinocerebellar ataxia type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766835019	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766836018	Infantile-onset autosomal recessive non progressive cerebellar ataxia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3766837010	A rare genetic autosomal recessive cerebellar ataxia disease with characteristics of nonprogressive cerebellar ataxia, with onset in infancy, manifesting with delayed motor and speech development, gait ataxia, dysmetria, hypotonia, increased deep tendon reflexes and dysarthria. Additional variable manifestations include moderate nystagmus on lateral gaze, mild spasticity, intention tremor, short stature and pes planus. Brain imaging reveals cerebellar vermis atrophy.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
12717261000172117	ataxie cérébelleuse autosomique récessive non progressive à début infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12717271000172114	SCAR6 - ataxie spinocérébelleuse autosomique récessive de type 6	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
12717281000172112	ataxie spinocérébelleuse autosomique récessive de type 6	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4612551000172116	autosomaal recessieve niet-progressieve cerebellaire ataxie beginnend op zuigelingenleeftijd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4612561000172119	SCAR6	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4612571000172111	autosomaal recessieve spinocerebellaire ataxie type 6	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)