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

SNOMED CT Concept\Clinical finding\...

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

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

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

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

\Finding of brain\Encephalopathy\...

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

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

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

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

\Disorder of head\Encephalopathy\...

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

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

\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson's 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\Intellectual ability - finding\Intellectual disability\Early onset parkinsonism and intellectual disability syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\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's 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\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of body system\Neurological disorder\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\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Parkinsonism\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Disorder of head\Encephalopathy\Degenerative brain disorder\Cerebral degeneration\Parkinson's disease\Young onset Parkinson's disease\Early onset parkinsonism and intellectual disability syndrome
\Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Young onset Parkinson's 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, Primitive. 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 Case insensitive SNOMED CT core

3304758012 Early onset parkinsonism and intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core

3304759016 Laxova Opitz syndrome en Synonym Active Case sensitive SNOMED CT core

3304760014 Waisman syndrome en Synonym Active Case sensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3304757019	Early onset parkinsonism and intellectual disability syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304758012	Early onset parkinsonism and intellectual disability syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304759016	Laxova Opitz syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3304760014	Waisman syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core