722763000: Infantile dystonia parkinsonism (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Bradykinesia\Parkinsonism\Infantile dystonia parkinsonism
• \Finding of movement\Movement disorder\Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Central nervous system finding\Finding of brain\Encephalopathy\Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\...
• \Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Finding of head region\Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Disorder of head\Encephalopathy\...
• \Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile dystonia parkinsonism
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile dystonia parkinsonism
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Infantile dystonia parkinsonism
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Infantile dystonia parkinsonism
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism
• \Disease\Disorder of head\Encephalopathy\Disorder of basal ganglia\Parkinsonism\Infantile dystonia parkinsonism
• \Disease\Movement disorder\Extrapyramidal disease\Parkinsonism\Infantile dystonia parkinsonism
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Infantile dystonia parkinsonism

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3333387019	Infantile dystonia parkinsonism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3333388012	Dopamine transporter deficiency syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3333389016	Infantile dystonia parkinsonism	en	Synonym	Active	Case insensitive	SNOMED CT core
3333390013	Parkinsonism-dystonia infantile	en	Synonym	Active	Case insensitive	SNOMED CT core
3333391012	An extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. The prevalence is unknown. The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism, dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission. 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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