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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\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\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\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\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\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\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 (disorder)\Hereditary disorder of nervous system (disorder)\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 (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebral degeneration (disorder)\Cerebral degeneration in childhood\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of body system\Disease 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\Disease 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\Chronic brain syndrome (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Dystonia\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Childhood-onset basal ganglia degeneration syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\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 (disorder)\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
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
4634475018	A rare genetic neurodegenerative disease with characteristics of 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
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
3397171001000112	Basalgangliendegeneration-Syndrom mit Beginn im Kindesalter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789371000241118	syndrome de Lenk-Ploski	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789381000241116	syndrome de dégénérescence des ganglions de la base débutant dans l'enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789401000241116	syndrome de dégénérescence des noyaux gris centraux débutant dans l'enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789371000241118	syndrome de Lenk-Ploski	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789381000241116	syndrome de dégénérescence des ganglions de la base débutant dans l'enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789401000241116	syndrome de dégénérescence des noyaux gris centraux débutant dans l'enfance	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3397171001000112	Basalgangliendegeneration-Syndrom mit Beginn im Kindesalter	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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