722435003: Dystonia 16 (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia\Dystonia 16
• \Central nervous system finding\Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Dystonia 16
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Dystonia 16
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Extrapyramidal disease\Dystonia\Dystonia 16
• \Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Dystonia 16
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Dystonia 16
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Dystonia 16
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Dystonia 16
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Dystonia 16
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Extrapyramidal disease\Dystonia\Dystonia 16
• \Disease\Disorder of head\Encephalopathy\Extrapyramidal disease\Dystonia\Dystonia 16
• \Disease\Movement disorder\Extrapyramidal disease\Dystonia\Dystonia 16

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3332055017	Dystonia 16 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332056016	Dystonia 16	en	Synonym	Active	Case insensitive	SNOMED CT core
3332057013	Early-onset dystonia parkinsonism	en	Synonym	Active	Case insensitive	SNOMED CT core
3332058015	A very rare movement disorder with characteristics of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Disease presents in infancy to late childhood with one of two possible phenotypes: either generalized dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalized and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2. Inherited in an autosomal recessive manner.	en	Definition	Active	Case sensitive	SNOMED CT core
3332059011	A very rare movement disorder with characteristics of early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. Disease presents in infancy to late childhood with one of two possible phenotypes: either generalised dystonia or dystonia-parkinsonism not responsive to L-Dopa. Dystonia usually starts in one limb, becomes generalised and mainly affects the trunk, neck and oromandibular muscles. Motor and speech developmental delays were also reported. The phenotypic spectrum of this disease is still being determined. Caused by mutations in the protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA) gene, located on chromosome 2q31.2. 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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