1186856001: Atypical pantothenate kinase associated neurodegeneration (disorder)

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

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

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

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

\Finding of brain\Disorder of brain (disorder)\...

\Extrapyramidal disease\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)

\Disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)

\Degenerative brain disorder\Cerebral degeneration (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)

\Finding of head region\Disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Extrapyramidal disease\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)

\Disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)

\Degenerative brain disorder\Cerebral degeneration (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)\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)\System disorder of the nervous system (disorder)\Disorder presenting primarily with chorea (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)\Extrapyramidal disease\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)\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)\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)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Pigmentary pallidal degeneration\Atypical pantothenate kinase associated neurodegeneration (disorder)
\Disease\Movement disorder\Extrapyramidal disease\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:

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
5342381000052119 atypisk pantotenatkinasassocierad neurodegeneration sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	true	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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
5342381000052119	atypisk pantotenatkinasassocierad neurodegeneration	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)