716107009: Early onset parkinsonism and intellectual disability syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome

\Finding of movement\Bradykinesia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Finding of movement\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Central nervous system finding\Finding of brain\Disorder of brain\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome
\Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

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

\Finding of brain\Disorder of brain\...

\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Finding of head region\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Disorder of head\Disorder of brain\...

\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome

\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
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Early onset parkinsonism and intellectual disability syndrome
\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
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\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
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of head\Disorder of brain\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Early onset parkinsonism and intellectual disability syndrome

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

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 SNOMED CT core module

3304758012 Early onset parkinsonism and intellectual disability syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3304759016 Laxova Opitz syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3304760014 Waisman syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early onset parkinsonism and intellectual disability syndrome	Is a	Mental retardation	false	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Is a	Young onset Parkinson disease	true	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Finding site	Basal ganglion structure	true	Inferred relationship	Existential restriction modifier	2
Early onset parkinsonism and intellectual disability syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Early onset parkinsonism and intellectual disability syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Causative agent	Alpha-synuclein	false	Inferred relationship	Existential restriction modifier	2
Early onset parkinsonism and intellectual disability syndrome	Associated morphology	Degenerative abnormality	true	Inferred relationship	Existential restriction modifier	2
Early onset parkinsonism and intellectual disability syndrome	Interprets	Movement	true	Inferred relationship	Existential restriction modifier	4
Early onset parkinsonism and intellectual disability syndrome	Has interpretation	Slow	true	Inferred relationship	Existential restriction modifier	4
Early onset parkinsonism and intellectual disability syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Existential restriction modifier
Early onset parkinsonism and intellectual disability syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
Early onset parkinsonism and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
Early onset parkinsonism and intellectual disability syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Early onset parkinsonism and intellectual disability syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets