723992000: Kufor Rakeb syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome
• \Head finding (finding)\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Kufor Rakeb syndrome
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\Kufor Rakeb syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Kufor Rakeb syndrome
• \Finding of movement\Bradykinesia (finding)\Parkinsonism\Kufor Rakeb syndrome
• \Finding of movement\Movement disorder\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Kufor Rakeb syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Kufor Rakeb syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Kufor Rakeb syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kufor Rakeb syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Kufor Rakeb syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Kufor Rakeb syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Kufor Rakeb 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)\Parkinsonism\Kufor Rakeb syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Disorder of basal ganglia (disorder)\Parkinsonism\Kufor Rakeb syndrome
• \Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Kufor Rakeb syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3428338014	Kufor Rakeb syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428339018	Kufor Rakeb syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428340016	PARK9 - Parkinson disease 9	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428341017	Parkinson disease 9	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403181013	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403182018	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterised by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428338014	Kufor Rakeb syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428339018	Kufor Rakeb syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428340016	PARK9 - Parkinson disease 9	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428341017	Parkinson disease 9	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3428342012	A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403181013	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403182018	Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterised by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3386541001000111	Kufor-Rakeb-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5926851000241114	syndrome de Kufor-Rakeb	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5926851000241114	syndrome de Kufor-Rakeb	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386541001000111	Kufor-Rakeb-Syndrom	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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