723992000: Kufor Rakeb syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du mouvement\Bradykinesia (finding)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \constatation à propos du mouvement\Movement disorder\Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Finding of head region\Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Kufor Rakeb syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Kufor Rakeb syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Kufor Rakeb syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Kufor Rakeb syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\parkinsonisme\Kufor Rakeb syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\parkinsonisme\Kufor Rakeb syndrome (disorder)

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
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

Expanded Value Set

This concept is not in any reference sets

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