1186861004: klassieke pantothenaatkinasegeassocieerde neurodegeneratie (aandoening)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration

\Finding of movement (finding)\Involuntary movement\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\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\Classical pantothenate kinase associated neurodegeneration
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Classical pantothenate kinase associated neurodegeneration
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Classical pantothenate kinase associated neurodegeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Classical pantothenate kinase associated neurodegeneration
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\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)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\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)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\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)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\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\Classical pantothenate kinase associated neurodegeneration
\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)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration
\Disease\Movement disorder\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Classical pantothenate kinase associated neurodegeneration

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical pantothenate kinase associated neurodegeneration	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Classical pantothenate kinase associated neurodegeneration	Is a	Pigmentary pallidal degeneration	true	Inferred relationship	Some
Classical pantothenate kinase associated neurodegeneration	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Classical pantothenate kinase associated neurodegeneration	Interprets	Movement	false	Inferred relationship	Some	2
Classical pantothenate kinase associated neurodegeneration	Finding site	Globus pallidus structure	true	Inferred relationship	Some	1
Classical pantothenate kinase associated neurodegeneration	Associated morphology	Pigmentary degeneration	true	Inferred relationship	Some	1
Classical pantothenate kinase associated neurodegeneration	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Classical pantothenate kinase associated neurodegeneration	Interprets	Movement	true	Inferred relationship	Some	3
Classical pantothenate kinase associated neurodegeneration	Interprets	Movement observable	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Chorea due to classical pantothenate kinase associated neurodegeneration (disorder)	Due to	True	Classical pantothenate kinase associated neurodegeneration	Inferred relationship	Some	3
Dementia due to classical pantothenate kinase associated neurodegeneration	Due to	True	Classical pantothenate kinase associated neurodegeneration	Inferred relationship	Some	3

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4667855017	Classical pantothenate kinase associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667856016	Classical pantothenate kinase associated neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13242351000146111	klassieke pantothenaatkinasegeassocieerde neurodegeneratie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242361000146114	klassieke PKAN	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242371000146115	klassieke NBIA 1	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242381000146118	klassieke neurodegeneratie met cerebrale ijzeraccumulatie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242391000146116	klassieke neurodegeneratie met ijzerstapeling in hersenen type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242401000146118	klassieke pantothenaatkinasegeassocieerde neurodegeneratie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)