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363847004: Movement observable (observable entity)

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
486976015 Movement observable en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
770030010 Movement observable (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
168701000077111 entité observable du mouvement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

345 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Movement observable Is a Neurological observable (observable entity) false Inferred relationship Some
Movement observable Is a Observable entity (observable entity) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Sleep-related movement disorder caused by drug Interprets True Movement observable Inferred relationship Some 3
Transient motor tic (disorder) Interprets True Movement observable Inferred relationship Some 3
Normal abdominal wall movement (finding) Interprets True Movement observable Inferred relationship Some 3
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. Interprets True Movement observable Inferred relationship Some 6
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. Interprets True Movement observable Inferred relationship Some 5
Synkinesis of face (finding) Interprets True Movement observable Inferred relationship Some 2
A rare infantile onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. Interprets True Movement observable Inferred relationship Some 2
Orthostatic hypotension co-occurrent and due to Parkinson's disease (disorder) Interprets True Movement observable Inferred relationship Some 4
DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). Interprets True Movement observable Inferred relationship Some 2
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. Interprets True Movement observable Inferred relationship Some 2
A form of focal dystonia characterized by cervical, laryngeal and hand-forearm dystonia. Interprets True Movement observable Inferred relationship Some 2
A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood. Interprets True Movement observable Inferred relationship Some 4
Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome. Interprets True Movement observable Inferred relationship Some 5
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. Interprets True Movement observable Inferred relationship Some 2
Parkinsonism co-occurrent and due to acute infection (disorder) Interprets True Movement observable Inferred relationship Some 3
Parkinsonism due to human immunodeficiency virus infection (disorder) Interprets True Movement observable Inferred relationship Some 2
Parkinsonism following infection (disorder) Interprets True Movement observable Inferred relationship Some 3
Parkinsonism due to hereditary spastic paraplegia (disorder) Interprets True Movement observable Inferred relationship Some 3
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. Interprets True Movement observable Inferred relationship Some 2
Atypical Parkinsonism (disorder) Interprets True Movement observable Inferred relationship Some 3
Parkinsonism due to heredodegenerative disorder (disorder) Interprets True Movement observable Inferred relationship Some 3
Ataxia due to mitochondrial mutations Interprets True Movement observable Inferred relationship Some 2
Tremor due to metabolic disorder Interprets True Movement observable Inferred relationship Some 2
Secondary tic disorder (disorder) Interprets True Movement observable Inferred relationship Some 2
Tic due to developmental disorder (disorder) Interprets True Movement observable Inferred relationship Some 3
Segmental myoclonus (disorder) Interprets True Movement observable Inferred relationship Some 2
Primary tic disorder (disorder) Interprets True Movement observable Inferred relationship Some 2
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. Interprets True Movement observable Inferred relationship Some 2
A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome. Interprets True Movement observable Inferred relationship Some 5
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. Interprets True Movement observable Inferred relationship Some 2
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. Interprets True Movement observable Inferred relationship Some 3
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. Interprets True Movement observable Inferred relationship Some 4
A rare disorder characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The etiology is unknown. Interprets True Movement observable Inferred relationship Some 1
Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Interprets True Movement observable Inferred relationship Some 4
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. Interprets True Movement observable Inferred relationship Some 3
Infection causing tic (disorder) Interprets True Movement observable Inferred relationship Some 1
Tic due to and following infection (disorder) Interprets True Movement observable Inferred relationship Some 4
Infection causing parkinsonism (disorder) Interprets True Movement observable Inferred relationship Some 2
Sporadic Parkinson disease (disorder) Interprets True Movement observable Inferred relationship Some 3
Parkinsonism due to and following injury of head (disorder) Interprets True Movement observable Inferred relationship Some 4
Parkinsonism due to mass lesion of brain (disorder) Interprets True Movement observable Inferred relationship Some 3
Enhanced physiological tremor (finding) Interprets True Movement observable Inferred relationship Some 1
Tremor due to central nervous system disease (finding) Interprets True Movement observable Inferred relationship Some 2
Focal myoclonus (finding) Interprets True Movement observable Inferred relationship Some 2
Functional dystonia (disorder) Interprets True Movement observable Inferred relationship Some 3
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. Interprets True Movement observable Inferred relationship Some 3
An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. Interprets True Movement observable Inferred relationship Some 2
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. Interprets True Movement observable Inferred relationship Some 1
A rare, genetic, parkinsonian disorder characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most forms of this disease. Interprets True Movement observable Inferred relationship Some 3
Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. Interprets True Movement observable Inferred relationship Some 4
Primary progressive freezing gait syndrome (disorder) Interprets True Movement observable Inferred relationship Some 1
Parkinsonism with dementia of Guadeloupe is characterized by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. Interprets True Movement observable Inferred relationship Some 3
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. Interprets True Movement observable Inferred relationship Some 2
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. Interprets True Movement observable Inferred relationship Some 2
A very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. Interprets True Movement observable Inferred relationship Some 2
A rare tremor disorder characterized by an isolated high frequency (>12Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing. Interprets True Movement observable Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Interprets True Movement observable Inferred relationship Some 4
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID). Interprets True Movement observable Inferred relationship Some 3
Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. Interprets True Movement observable Inferred relationship Some 2
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. Interprets True Movement observable Inferred relationship Some 1
A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. Interprets True Movement observable Inferred relationship Some 3
Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. Interprets True Movement observable Inferred relationship Some 2
The occurrence of abnormal involuntary movements that are incongruent with a known neurologic cause and are significantly improved on neurological exam with distraction or non-physiologic maneuvers. The disorder is defined by its clinical appearance, rather than by any causative speculation. Interprets True Movement observable Inferred relationship Some 3
Tracheal dyskinesia (disorder) Interprets True Movement observable Inferred relationship Some 3
Rubral tremor (finding) Interprets True Movement observable Inferred relationship Some 1
Dystonia of right hand (disorder) Interprets True Movement observable Inferred relationship Some 3
Dystonia of left hand (disorder) Interprets True Movement observable Inferred relationship Some 3
Shuddering attacks (disorder) Interprets True Movement observable Inferred relationship Some 2
Stiff neck Interprets True Movement observable Inferred relationship Some 1
Stiff back Interprets True Movement observable Inferred relationship Some 1
Cervical spine stiff Interprets True Movement observable Inferred relationship Some 1
Sporadic olivopontocerebellar atrophy (disorder) Interprets True Movement observable Inferred relationship Some 2
Focal dystonia (disorder) Interprets True Movement observable Inferred relationship Some 2
Periodic leg movements of sleep (finding) Interprets True Movement observable Inferred relationship Some 1
Chronic tremor (finding) Interprets True Movement observable Inferred relationship Some 2
Dystonia of head (disorder) Interprets True Movement observable Inferred relationship Some 2
Hypnic jerk (finding) Interprets True Movement observable Inferred relationship Some 2
Callosity due to habit tic (disorder) Interprets True Movement observable Inferred relationship Some 4
Spasmodic torticollis as late effect of trauma (disorder) Interprets True Movement observable Inferred relationship Some 4
Acute muscle stiffness of neck (finding) Interprets True Movement observable Inferred relationship Some 2
Spasmodic torticollis due to infection Interprets True Movement observable Inferred relationship Some 4
Tremor due to orthostatic hypotension (finding) Interprets True Movement observable Inferred relationship Some 2
Blepharospasm of right eyelid Interprets True Movement observable Inferred relationship Some 3
Blepharospasm of left eyelid Interprets True Movement observable Inferred relationship Some 3
Bilateral blepharospasm Interprets True Movement observable Inferred relationship Some 4
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. Interprets True Movement observable Inferred relationship Some 2
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. Interprets True Movement observable Inferred relationship Some 3
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance. Refractive errors and cerebellar signs, such as gait ataxia and adiadochokinesia, may be associated. There have been no further descriptions in the literature since 1976. Interprets True Movement observable Inferred relationship Some 5
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism). Interprets True Movement observable Inferred relationship Some 3
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. Interprets True Movement observable Inferred relationship Some 3
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. Interprets True Movement observable Inferred relationship Some 2
A rare neurologic disease characterized by excessive startle response to unexpected auditory, tactile or visual stimuli, associated with hyperreflexia. Interprets True Movement observable Inferred relationship Some 4
A rare, genetic, movement disorder characterized by involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body, which are present in various first-degree members of a family, persist beyond the first decade of life, and have no associated comorbidities. Interprets True Movement observable Inferred relationship Some 2
A rare, X-linked, syndromic intellectual disability disease characterized by neonatal hypertonia which evolves to hypotonia and an exaggerated startle response (to sudden visual, auditory or tactile stimuli), followed by the development of early-onset, frequently refractory, tonic or myoclonic seizures. Progressive epileptic encephalopathy, intellectual disability, and psychomotor development arrest, with subsequent decline, may be additionally associated. Interprets True Movement observable Inferred relationship Some 6
A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported. Interprets True Movement observable Inferred relationship Some 2
Acute akathisia caused by drug (disorder) Interprets True Movement observable Inferred relationship Some 4
Finding of movement of sacrum (finding) Interprets True Movement observable Inferred relationship Some 2
Flexion of left side of sacral spine (finding) Interprets True Movement observable Inferred relationship Some 2
Flexion of right side of sacral spine (finding) Interprets True Movement observable Inferred relationship Some 2
Extension of right side of sacral spine Interprets True Movement observable Inferred relationship Some 3
Extension of left side of sacral spine Interprets True Movement observable Inferred relationship Some 3

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