725392005: Autosomal dominant striatal neurodegeneration (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
\Head finding (finding)\Finding of head region\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)

\Finding of movement (finding)\Bradykinesia (finding)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Finding of movement (finding)\Movement disorder\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (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\Autosomal dominant striatal neurodegeneration (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)\Autosomal dominant striatal neurodegeneration (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal dominant striatal neurodegeneration (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\Autosomal dominant striatal neurodegeneration (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\Autosomal dominant striatal neurodegeneration (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)\Autosomal dominant striatal neurodegeneration (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\Autosomal dominant striatal neurodegeneration (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)\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of basal ganglia (disorder)\Parkinsonism\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebral degeneration (disorder)\Autosomal dominant striatal neurodegeneration (disorder)
\Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Autosomal dominant striatal neurodegeneration (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

3441978014 Autosomal dominant striatal neurodegeneration (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3441979018 Autosomal dominant striatal neurodegeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3441980015 ADSD - autosomal dominant striatal neurodegeneration en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3441981016 An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant striatal neurodegeneration (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Is a	Parkinsonism	true	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Is a	Cerebral degeneration (disorder)	true	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Associated morphology	Degeneration	false	Inferred relationship	Some	1
Autosomal dominant striatal neurodegeneration (disorder)	Finding site	Corpus striatum structure	true	Inferred relationship	Some	1
Autosomal dominant striatal neurodegeneration (disorder)	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Autosomal dominant striatal neurodegeneration (disorder)	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Autosomal dominant striatal neurodegeneration (disorder)	Interprets	Movement	true	Inferred relationship	Some	3
Autosomal dominant striatal neurodegeneration (disorder)	Has interpretation	Slow	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3441978014	Autosomal dominant striatal neurodegeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441979018	Autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3441980015	ADSD - autosomal dominant striatal neurodegeneration	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441981016	An adult-onset movement disorder with characteristics of bradykinesia, dysarthria and muscle rigidity. To date the disease has been observed in seven individuals in one family. Onset of symptoms is in the fourth to fifth decade of life with mild progressive dysarthria and hypokinesia. Dysdiadochokinesia is also present and muscle tone is slightly increased. Dysfunction and changes of the striatal part of the basal ganglia are visible on magnetic resonance imaging. Caused by mutation in the PDE8B gene (5q13.3-q14.1) and transmitted in an autosomal dominant manner with complete penetrance in the investigated family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core