716107009: syndroom van parkinsonisme met vroege debuutleeftijd en verstandelijke beperking (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Finding of movement (finding)\Bradykinesia (finding)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (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\Early onset parkinsonism and intellectual disability syndrome (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)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Degenerative disorder of basal ganglia (disorder)\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Parkinson's disease\Young onset Parkinson disease (disorder)\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Early onset parkinsonism and intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304757019	Early onset parkinsonism and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304758012	Early onset parkinsonism and intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304759016	Laxova Opitz syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3304760014	Waisman syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
139081000146115	syndroom van parkinsonisme met vroege debuutleeftijd en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
139091000146118	syndroom van vroeg beginnend parkinsonisme en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
613321000146113	syndroom van parkinsonisme met vroege debuutleeftijd en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304761013	A basal ganglia disorder with manifestation of parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.	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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