717942003: Brain dopamine-serotonin vesicular transport disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Metabolic disease\Metabolic disorder of transport\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324413013	An infantile-onset neurometabolic disease with characteristics of dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. The prevalence is unknown. It has been described in 8 patients from one Saudi Arabian family to date. Caused by a mutation in the SLC18A2 gene (10q25), encoding the vesicular monoamine transporter 2 (VMAT2) which is responsible for the transport of dopamine and serotonin into synaptic vesicles. Mutations in this gene lead to the impairment of VMAT2 and consequently to problems with motor control, autonomic functioning and mood regulation. It is inherited in an autosomal recessive manner.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401644016	A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401645015	A rare infantile onset neurometabolic disease characterised by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324411010	Brain dopamine-serotonin vesicular transport disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324412015	Brain dopamine-serotonin vesicular transport disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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