15802004: Dystonia (disorder)

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

\Finding of movement\Movement disorder\Extrapyramidal disease\Dystonia

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Extrapyramidal disease\Dystonia

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dystonia	Is a	Extrapyramidal disease	true	Inferred relationship	Some
Dystonia	Finding site	Extrapyramidal system structure (body structure)	true	Inferred relationship	Some	1
Dystonia	Interprets	mouvement	false	Inferred relationship	Some	2
Dystonia	Interprets	Movement observable	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oral dystonia	Is a	False	Dystonia	Inferred relationship	Some
Paroxysmal dystonia	Is a	True	Dystonia	Inferred relationship	Some
A paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. The prevalence is unknown. Onset usually occurs during infancy or early childhood. The dystonic movements are characterised by abnormal posturing of the head and neck (torticollis) and severe arching of the spine. The dystonic movements are clearly associated with gastro-oesophageal reflux but the pathophysiological mechanism is not clearly understood.	Is a	False	Dystonia	Inferred relationship	Some
Drug-induced dystonia	Is a	True	Dystonia	Inferred relationship	Some
Isolated cervical dystonia	Is a	False	Dystonia	Inferred relationship	Some
Meige syndrome	Is a	False	Dystonia	Inferred relationship	Some
Idiopathic orofacial dystonia	Is a	False	Dystonia	Inferred relationship	Some
Posthemiplegic dystonia	Is a	True	Dystonia	Inferred relationship	Some
Occupational dystonia	Is a	True	Dystonia	Inferred relationship	Some
Diurnal dystonia	Is a	True	Dystonia	Inferred relationship	Some
Sleep-related dystonia	Is a	True	Dystonia	Inferred relationship	Some
Idiopathic torsion dystonia (disorder)	Is a	False	Dystonia	Inferred relationship	Some
Dystonia lenticularis	Is a	True	Dystonia	Inferred relationship	Some
dystonie de torsion symptomatique	Is a	False	Dystonia	Inferred relationship	Some
Fragment of torsion dystonia	Is a	False	Dystonia	Inferred relationship	Some
Blepharospasm	Is a	False	Dystonia	Inferred relationship	Some
Adductor spastic dysphonia of dystonia	Is a	False	Dystonia	Inferred relationship	Some
Fragments of torsion dystonia	Is a	True	Dystonia	Inferred relationship	Some
[X]Other dystonia	Is a	False	Dystonia	Inferred relationship	Some
[X]Dystonia, unspecified	Is a	False	Dystonia	Inferred relationship	Some
Hemidystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Generalized dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Segmental dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Torsion dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Myoclonic dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia of head (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Focal dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
X-linked dystonia parkinsonism	Is a	True	Dystonia	Inferred relationship	Some
A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture.	Is a	True	Dystonia	Inferred relationship	Some
Abrupt onset of dystonia with parkinsonism over a period of hours to days.	Is a	True	Dystonia	Inferred relationship	Some
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	Is a	True	Dystonia	Inferred relationship	Some
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.	Is a	True	Dystonia	Inferred relationship	Some
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	Is a	True	Dystonia	Inferred relationship	Some
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.	Is a	True	Dystonia	Inferred relationship	Some
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.	Is a	True	Dystonia	Inferred relationship	Some
Functional dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreoathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.	Is a	True	Dystonia	Inferred relationship	Some
Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.	Is a	True	Dystonia	Inferred relationship	Some
An inherited disorder characterised by hypermanganesemia. Manganese accumulates in the region of the brain responsible for the coordination of movement causing dystonia and other uncontrolled movements. Two types of hypermanganesemia with dystonia have been identified; hypermanganesemia with dystonia, polycythaemia, and cirrhosis (HMDPC) and hypermanganesemia with dystonia 2 and they are distinguished by genetic cause and features. Inherited in an autosomal recessive pattern.	Is a	True	Dystonia	Inferred relationship	Some
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).	Is a	True	Dystonia	Inferred relationship	Some
A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.	Is a	True	Dystonia	Inferred relationship	Some
Dissociative neurological symptom disorder co-occurrent with dystonia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Toxic dystonia	Is a	True	Dystonia	Inferred relationship	Some
Huntington's chorea	Is a	True	Dystonia	Inferred relationship	Some
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.	Is a	True	Dystonia	Inferred relationship	Some
A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder, principally with dyskinesia of the limbs and trunk, and facial involvement including orolingual dyskinesia, drooling, and dysarthria. Variable hyperkinetic movements may include a jerky quality, intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.	Is a	True	Dystonia	Inferred relationship	Some
A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to Leigh syndrome	Is a	False	Dystonia	Inferred relationship	Some
A rare autosomal recessive cerebellar ataxia characterized by onset of dystonia and other extrapyramidal signs, ataxia, oculomotor apraxia, and progressive sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.	Is a	True	Dystonia	Inferred relationship	Some
A rare genetic dystonia characterized by focal or segmental isolated dystonia involving the face, neck, upper limbs (commonly writing dystonia), larynx, or trunk, with an onset from childhood to early adulthood. Dystonia may be tremulous, giving rise to head or hand tremor. Mode of inheritance is autosomal recessive.	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to glutaric acidemia (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to hereditary disease (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to homocystinuria (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to neutral 1 amino acid transport defect (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to metachromatic leucodystrophy (disorder)	Is a	False	Dystonia	Inferred relationship	Some
Dystonia due to mitochondrial disease (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to Rett syndrome	Is a	False	Dystonia	Inferred relationship	Some
Dystonia due to head injury (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to encephalitis	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to disorder of peripheral nervous system (disorder)	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to cerebral anoxia	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to focal brain lesion	Is a	True	Dystonia	Inferred relationship	Some
Dystonia due to familial basal ganglia calcifications	Is a	True	Dystonia	Inferred relationship	Some
A rare genetic neurological disorder with characteristics of childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills, and development of severe dysphagia requiring tube feeding, seizures, cerebellar syndrome, dystonia, and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities, ambulation is preserved, and brain imaging is normal.	Is a	True	Dystonia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
26780012	Dystonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
477519014	Dystonia disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
742697010	Dystonia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
948051000195115	distonia	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
2571000172110	dystonie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
404261000274112	Dystonie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module