76375004: Extrapyramidal system structure (body structure)

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

\Structure of anatomical cluster (body structure)\Structure of anatomical compartment (body structure)\Intracranial structure\Brain structure\Brain part\Extrapyramidal system structure

\Body organ structure\Brain and spinal cord structure (body structure)\Brain structure\Brain part\Extrapyramidal system structure
\Body organ structure\Organ part (body structure)\Brain part\Extrapyramidal system structure

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

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
Extrapyramidal system structure	Is a	Brain part	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Extrapyramidal system structure	partie de	Entire brain	false	Additional relationship (core metadata concept)	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spasmodic torticolis as late effect of trauma	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Primary dystonia type 2	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive dopa responsive dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary dystonia 21	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Maternally inherited mitochondrial dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary dystonia type 4 (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary dystonia type 13	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paroxysmal dystonia	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia.	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Brain dopamine-serotonin vesicular transport disease (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Paroxysmal exertion-induced dyskinesia	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hemidystonia hemiatrophy syndrome (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Chorea co-occurrent and due to dentatorubropallidoluysian degeneration	Finding site	False	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)
Functional dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia of right hand	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia of left hand (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ataxia telangiectasia variant	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive myoclonic epilepsy with dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypermanganesemia with dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypermanganesemia with dystonia, polycythemia, and cirrhosis	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hypermanganesemia with dystonia 2 (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Proximal myopathy with extrapyramidal signs	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	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	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Infantile epileptic dyskinetic encephalopathy	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blepharospasm of right eyelid (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Blepharospasm of left eyelid	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral blepharospasm	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Primary dystonia DYT17 type (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Adult-onset cervical dystonia DYT23 type (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is 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	Inferred relationship	Existential restriction modifier (core metadata concept)	4
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 (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment.	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lewy body dementia with behavioral disturbance (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital athetosis (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diffuse Lewy body disease with spongiform cortical change (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Dissociative neurological symptom disorder co-occurrent with dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Woodhouse Sakati syndrome	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Toxic dystonia	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Infantile-onset generalised dyskinesia with orofacial involvement	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hyperphenylalaninemia due to DNAJC12 deficiency	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Intellectual disability, epilepsy, extrapyramidal syndrome	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dopa responsive dystonia due to sepiapterin reductase deficiency	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dystonia due to Leigh syndrome (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Primary dystonia DYT27 type	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Adult-onset sporadic primary dystonia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Adult-onset familial idiopathic dystonia	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to Lesch Nyhan syndrome	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to glutaric acidemia (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to GM2 gangliosidosis	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to hereditary disease (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to homocystinuria (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to hereditary spastic paraplegia	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to head injury (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to neutral 1 amino acid transport defect (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to metachromatic leucodystrophy (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to Pelizaeus-Merzbacher disease (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to mitochondrial disease	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to Niemann-Pick disease type C (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to Rett syndrome	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to perinatal cerebral injury (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to atypical pantothenate kinase associated neurodegeneration (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to encephalitis	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to disorder of peripheral nervous system (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to cerebral anoxia	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to ataxia telangiectasia syndrome	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia caused by dopamine receptor antagonist	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to focal brain lesion	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to familial basal ganglia calcifications (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia due to Wilson disease	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dystonia 28 (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Interferon regulatory factor 2 binding protein like-related regressive neurodevelopmental disorder, dystonia, seizures syndrome (disorder)	Finding site	True	Extrapyramidal system structure	Inferred relationship	Existential restriction modifier (core metadata concept)	3

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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
126834019	Extrapyramidal system	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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