1172584005: Childhood-onset basal ganglia degeneration syndrome (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome

\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Childhood-onset basal ganglia degeneration syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
\Disease\Movement disorder\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Childhood-onset basal ganglia degeneration syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4634472015 Childhood-onset basal ganglia degeneration syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634473013 Childhood-onset basal ganglia degeneration syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4634474019 Lenk Ploski syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399324017 A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399325016 A rare genetic neurodegenerative disease characterised by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Childhood-onset basal ganglia degeneration syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Is a	Dystonia	true	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Is a	Cerebral degeneration in childhood	true	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Is a	Disorder of basal ganglia (disorder)	true	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Childhood-onset basal ganglia degeneration syndrome	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	2
Childhood-onset basal ganglia degeneration syndrome	Interprets	Movement	true	Inferred relationship	Some	3
Childhood-onset basal ganglia degeneration syndrome	Occurrence	Childhood	true	Inferred relationship	Some	1
Childhood-onset basal ganglia degeneration syndrome	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	1
Childhood-onset basal ganglia degeneration syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4634472015	Childhood-onset basal ganglia degeneration syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634473013	Childhood-onset basal ganglia degeneration syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4634474019	Lenk Ploski syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399324017	A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399325016	A rare genetic neurodegenerative disease characterised by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core