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

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Brain dopamine-serotonin vesicular transport disease
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brain dopamine-serotonin vesicular transport disease
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Brain dopamine-serotonin vesicular transport disease
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Brain dopamine-serotonin vesicular transport disease
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease
• \Disease\Metabolic disease\Metabolic disorder of transport\Brain dopamine-serotonin vesicular transport disease
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Brain dopamine-serotonin vesicular transport disease

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324411010	Brain dopamine-serotonin vesicular transport disease (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3324412015	Brain dopamine-serotonin vesicular transport disease	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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