1156822001: Autosomal recessive familial Parkinson disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of movement (finding)\Bradykinesia (finding)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease
\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\Autosomal recessive familial Parkinson disease
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease

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

\Finding of brain\Disorder of brain (disorder)\...

\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive familial Parkinson disease
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial Parkinson disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive familial Parkinson disease
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive familial Parkinson disease
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive familial Parkinson disease
\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\Autosomal recessive familial Parkinson disease
\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\Autosomal recessive familial Parkinson disease
\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)\Parkinson's disease\Autosomal recessive familial Parkinson disease
\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\Autosomal recessive familial Parkinson disease
\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)\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Parkinson's disease\Autosomal recessive familial Parkinson disease
\Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Parkinson's disease\Autosomal recessive familial Parkinson disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4576267016 Autosomal recessive familial Parkinson disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4576268014 Autosomal recessive familial Parkinson disease (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5075141000052119 autosomalt recessiv familjär Parkinsons sjukdom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive familial Parkinson disease	Associated morphology	Degenerative abnormality (morphologic abnormality)	true	Inferred relationship	Some	1
Autosomal recessive familial Parkinson disease	Is a	Parkinson's disease	true	Inferred relationship	Some
Autosomal recessive familial Parkinson disease	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Autosomal recessive familial Parkinson disease	Causative agent	Alpha-synuclein	false	Inferred relationship	Some	1
Autosomal recessive familial Parkinson disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive familial Parkinson disease	Finding site	Basal ganglion structure (body structure)	true	Inferred relationship	Some	1
Autosomal recessive familial Parkinson disease	Interprets	Movement	true	Inferred relationship	Some	3
Autosomal recessive familial Parkinson disease	Has interpretation	Slow	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4576267016	Autosomal recessive familial Parkinson disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4576268014	Autosomal recessive familial Parkinson disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5075141000052119	autosomalt recessiv familjär Parkinsons sjukdom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)