76375004: Extrapyramidal system structure (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Anatomical structure which has as its parts a heterogeneous collection of organs, organ parts, cells, cell parts or body part subdivisions that are adjacent to, or continuous with one another; does not constitute a cell part, cell, tissue, organ, or body part subdivision.\Structure of anatomical compartment (body structure)\Intracranial structure (body structure)\Brain structure\Brain part\Extrapyramidal system structure (body structure)

\Body system structure\Structure of subdivision of organ system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)\Central nervous system part\Brain and spinal cord structure (body structure)\Brain structure\Brain part\Extrapyramidal system structure (body structure)
\Body system structure\Structure of nervous system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)\Central nervous system part\Brain and spinal cord structure (body structure)\Brain structure\Brain part\Extrapyramidal system structure (body structure)

\Body region structure\Body part structure\Upper body structure\Upper body part structure\Structure of head and/or neck (body structure)\Head structure\Head part\Intracranial structure (body structure)\Brain structure\Brain part\Extrapyramidal system structure (body structure)

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

Descriptions:

Id Description Lang Type Status Case? Module

126834019 Extrapyramidal system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

503270018 Extrapyramidal system structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

817088012 Extrapyramidal system structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Extrapyramidal system structure (body structure)	Is a	Brain part	true	Inferred relationship	Some
Extrapyramidal system structure (body structure)	partie de	Entire brain	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spasmodic torticollis as late effect of trauma (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	3
A rare isolated dystonia characterized by segmental dystonia that predominantly affects the distal limbs and leads to abnormal posture. This disease has a progressive clinical course and may develop into generalized dystonia but remains mild overall.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare primary torsion dystonia characterized by focal or segmental dystonia with onset either in the cranial-cervical region or in the upper limbs. Age of onset varies between 5 years and adulthood, with a mean age of onset of 16 years. Clinical manifestations are generally mild and slowly progressive.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Paroxysmal dystonia	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	4
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Chorea co-occurrent and due to dentatorubropallidoluysian degeneration (disorder)	Finding site	False	Extrapyramidal system structure (body structure)	Inferred relationship	Some
Functional dystonia (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia of right hand (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia of left hand (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Hypermanganesemia with dystonia, polycythaemia, and cirrhosis	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones, rapidly progressive dystonia, spasticity, bulbar dysfunction, and parkinsonism, resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia, variably also of other brain regions.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
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).	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	3
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Blepharospasm of right eyelid	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Blepharospasm of left eyelid	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Bilateral blepharospasm	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Primary dystonia, DYT17 type is a rare, genetic, isolated dystonia initially presenting as torticollis, and later progressing to segmental or generalized dystonia. Dysphonia and dysarthria also occur later in the disease course.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare, genetic, isolated dystonia characterized by adult-onset, non-progressive, focal cervical dystonia typically manifesting with torticollis and occasionally accompanied by mild head tremor and essential-type limb tremor.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	4
Dystonia-aphonia syndrome is a rare, genetic, persistent combined dystonia disorder characterized by slowly progressive, severe, caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties, and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (e.g. gingival or lingual hyperplasia), as well as delayed milestones and cognitive impairment.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
Lewy body dementia with behavioral disturbance	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
Congenital athetosis	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Diffuse Lewy body disease with spongiform cortical change	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	3
Dissociative neurological symptom disorder co-occurrent with dystonia (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	3
Toxic dystonia	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
Dopa responsive dystonia due to sepiapterin reductase deficiency (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
Dystonia due to Leigh syndrome	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	7
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare genetic epilepsy syndrome characterized by infantile or childhood onset of focal motor seizures remitting with age, as well as childhood onset of exercise-induced dystonia which often persists into adulthood. Additional reported features include nystagmus and postural tremor of the hands.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Adult-onset sporadic primary dystonia	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Adult-onset familial idiopathic dystonia (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to Lesch Nyhan syndrome (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to glutaric acidemia (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to GM2 gangliosidosis	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to hereditary disease (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to homocystinuria (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to hereditary spastic paraplegia (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to head injury (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to neutral 1 amino acid transport defect (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to Pelizaeus-Merzbacher disease (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to mitochondrial disease (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to Niemann-Pick disease type C (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to Rett syndrome	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to perinatal cerebral injury (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to atypical pantothenate kinase associated neurodegeneration (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to encephalitis	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to disorder of peripheral nervous system (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to cerebral anoxia	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to ataxia telangiectasia syndrome (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia caused by dopamine receptor antagonist (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to focal brain lesion	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to familial basal ganglia calcifications	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dystonia due to Wilson disease (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	2
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.	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	3
Early onset dementia due to Lewy body disease (disorder)	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1
Dementia due to Lewy body disease	Finding site	True	Extrapyramidal system structure (body structure)	Inferred relationship	Some	1

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Reference Sets

Anatomy structure and entire association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
126834019	Extrapyramidal system	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
503270018	Extrapyramidal system structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817088012	Extrapyramidal system structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core