1186856001: atypische 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\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\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\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Chorea\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\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\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Chorea\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\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\Atypical pantothenate kinase associated neurodegeneration (disorder)

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

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

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

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
Atypical pantothenate kinase associated neurodegeneration (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Atypical pantothenate kinase associated neurodegeneration (disorder)	Is a	Pigmentary pallidal degeneration	true	Inferred relationship	Some
Atypical pantothenate kinase associated neurodegeneration (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Atypical pantothenate kinase associated neurodegeneration (disorder)	Interprets	Movement	false	Inferred relationship	Some	2
Atypical pantothenate kinase associated neurodegeneration (disorder)	Finding site	Globus pallidus structure	true	Inferred relationship	Some	1
Atypical pantothenate kinase associated neurodegeneration (disorder)	Associated morphology	Pigmentary degeneration	true	Inferred relationship	Some	1
Atypical pantothenate kinase associated neurodegeneration (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Atypical pantothenate kinase associated neurodegeneration (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Atypical pantothenate kinase associated neurodegeneration (disorder)	Interprets	Movement observable	true	Inferred relationship	Some	2

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4667845016	Atypical pantothenate kinase associated neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4667846015	Atypical pantothenate kinase associated neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13239191000146114	atypische PKAN	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13239201000146111	atypische 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)
13239211000146113	atypische pantothenaatkinasegeassocieerde neurodegeneratie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13239221000146115	atypische 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)
13239231000146118	atypische pantothenaatkinasegeassocieerde neurodegeneratie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13242411000146116	atypische 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)