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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
2719291000005119 træk vedr. bevægelse da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

18 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Movement observable (observable entity) Is a Neurological observable true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Acquired horizontal gaze palsy (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Ophthalmoplegia due to abetalipoproteinemia (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 5
Isolated acquired horizontal gaze palsy (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others. Interprets True Movement observable (observable entity) Inferred relationship Some 4
Congenital horizontal gaze palsy (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
Isolated congenital horizontal gaze paresis Interprets True Movement observable (observable entity) Inferred relationship Some 4
Intermittent horizontal conjugate gaze deviation (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 6
Intermittent upward gaze deviation (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 6
Horizontal gaze preference (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 5
Ophthalmoplegia due to neuropathy (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Paralysis of downgaze Interprets True Movement observable (observable entity) Inferred relationship Some 4
Paralysis of upgaze (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Combined paralysis of upgaze and downgaze Interprets True Movement observable (observable entity) Inferred relationship Some 4
Wall-eyed bilateral internuclear ophthalmoplegia syndrome (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Interprets True Movement observable (observable entity) Inferred relationship Some 9
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Interprets True Movement observable (observable entity) Inferred relationship Some 13
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. Interprets True Movement observable (observable entity) Inferred relationship Some 10
A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. Interprets True Movement observable (observable entity) Inferred relationship Some 10
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement. Interprets True Movement observable (observable entity) Inferred relationship Some 10
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Interprets True Movement observable (observable entity) Inferred relationship Some 7
Vertical one-and-a-half syndrome (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Moderately severe dysfunction of the facial nerve evidenced by weakness and/or asymmetry of the face causing disfigurement, normal symmetry and tone at rest, absence of forehead movement, incomplete eye closure and asymmetry of the mouth even with maximum effort. Interprets True Movement observable (observable entity) Inferred relationship Some 1
Mild dysfunction of the facial nerve evidenced by slight facial weakness, possible mild synkinesis, normal symmetry and tone at rest, moderate to good forehead movement, complete eye closure and slight asymmetry of the mouth. Interprets True Movement observable (observable entity) Inferred relationship Some 1
Moderate dysfunction of the facial nerve evidenced by asymmetry of the face without disfigurement, moderate synkinesis, contracture, or hemifacial spasm, normal symmetry and tone at rest, slight to moderate movement of forehead, complete eye closure with effort and slight weakness of the mouth which persists even with maximum effort. Interprets True Movement observable (observable entity) Inferred relationship Some 1
Severe dysfunction of the facial nerve evidenced by barely perceptible movement, facial asymmetry at rest, absence of forehead movement, incomplete eye closure, and only slight movement of the mouth. Interprets True Movement observable (observable entity) Inferred relationship Some 1
A form of non-spastic cerebral palsy with decreased muscle tone, noticeably floppy muscles with poor or no head control. Interprets True Movement observable (observable entity) Inferred relationship Some 5
Periodic paralysis Interprets True Movement observable (observable entity) Inferred relationship Some 1
Allan-Herndon-Dudley syndrome Interprets True Movement observable (observable entity) Inferred relationship Some 11
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974. Interprets True Movement observable (observable entity) Inferred relationship Some 9
Tardy left ulnar nerve palsy (finding) Interprets True Movement observable (observable entity) Inferred relationship Some 2
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. Interprets True Movement observable (observable entity) Inferred relationship Some 7
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. Interprets True Movement observable (observable entity) Inferred relationship Some 9
A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions. Interprets True Movement observable (observable entity) Inferred relationship Some 9
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. Interprets True Movement observable (observable entity) Inferred relationship Some 10
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Interprets True Movement observable (observable entity) Inferred relationship Some 11
Periodic alternating gaze deviation Interprets True Movement observable (observable entity) Inferred relationship Some 4
Ophthalmoplegia due to phytanic acid storage disease (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Sustained upward gaze deviation (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Sustained horizontal conjugate gaze deviation, contralateral type (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 5
Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 5
Sustained horizontal conjugate gaze deviation Interprets True Movement observable (observable entity) Inferred relationship Some 5
Paralytic shellfish poisoning Interprets True Movement observable (observable entity) Inferred relationship Some 1
Autosomal dominant complex hereditary spastic paraplegia (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 2
Congenital multi-minicore disease with external ophthalmoplegia (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Interprets True Movement observable (observable entity) Inferred relationship Some 11
Fahr's syndrome Interprets True Movement observable (observable entity) Inferred relationship Some 4
Basal ganglia degeneration with calcification Interprets True Movement observable (observable entity) Inferred relationship Some 3
Aicardi Goutieres syndrome Interprets True Movement observable (observable entity) Inferred relationship Some 3
Autosomal dominant late onset basal ganglia degeneration Interprets True Movement observable (observable entity) Inferred relationship Some 3
Aicardi Goutieres syndrome type 1 Interprets True Movement observable (observable entity) Inferred relationship Some 3
Aicardi Goutieres syndrome type 2 Interprets True Movement observable (observable entity) Inferred relationship Some 3
Aicardi Goutieres syndrome type 3 Interprets True Movement observable (observable entity) Inferred relationship Some 3
Aicardi Goutieres syndrome type 4 (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
Aicardi Goutieres syndrome type 5 (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
Drug-induced chorea Interprets True Movement observable (observable entity) Inferred relationship Some 4
Chorea due to heredodegenerative disorder Interprets True Movement observable (observable entity) Inferred relationship Some 4
Oral choreiform movement Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea co-occurrent and due to Huntington disease-like condition (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
Paroxysmal choreoathetosis Interprets True Movement observable (observable entity) Inferred relationship Some 1
Choreoathetosis Interprets True Movement observable (observable entity) Inferred relationship Some 2
Chorea due to inherited organic acidemia (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to and following injury of head (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to antiphospholipid syndrome (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to chronic hepatocerebral degeneration Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to endocrine disorder Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to hyperglycemia Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to Huntington disease-like 3 (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Chorea due to tardive dyskinesia Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to prion disease (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to Lesch-Nyhan syndrome (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to metabolic disorder Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to inherited aminoaciduria (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to anoxia of brain (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea caused by dopamine receptor antagonist (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 2
Chorea due to hereditary ataxia (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to and following ventriculoperitoneal shunt (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 2
Chorea caused by oral contraceptive (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 2
Chorea due to cerebral injury due to birth trauma (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to ataxia telangiectasia syndrome (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to immunological disorder (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to neuroferritinopathy Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to polycythemia rubra vera Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to widespread metastatic malignant neoplastic disease (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to hypoparathyroidism (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to classical pantothenate kinase associated neurodegeneration (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 2
Chorea due to Huntington disease-like 2 (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 3
Chorea due to mitochondrial cytopathy Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to inborn error of metabolism (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to paraneoplastic syndrome Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to hyponatremia (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 1
Chorea due to Huntington disease-like 1 (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 4
Chorea co-occurrent and due to Wilson disease (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 7
Choreoacanthocytosis Interprets True Movement observable (observable entity) Inferred relationship Some 2
Dentatorubropallidoluysian degeneration Interprets True Movement observable (observable entity) Inferred relationship Some 2
Chorea due to immunoglobulin A vasculitis (disorder) Interprets True Movement observable (observable entity) Inferred relationship Some 2
Wilson's disease Interprets True Movement observable (observable entity) Inferred relationship Some 4
Pallidonigrospinal degeneration Interprets True Movement observable (observable entity) Inferred relationship Some 2
Rheumatic chorea with heart involvement Interprets True Movement observable (observable entity) Inferred relationship Some 5
Huntington's chorea Interprets True Movement observable (observable entity) Inferred relationship Some 2
Pallidonigral degeneration Interprets True Movement observable (observable entity) Inferred relationship Some 2

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