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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
486976015 Movement observable en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
168701000077111 entité observable du mouvement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

18 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Movement observable Is a Neurological observable true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Facial palsy as birth trauma Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegic cerebral palsy affecting upper limb (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegic cerebral palsy affecting lower limb Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Dyskinetic cerebral palsy Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
A subtype of non-spastic cerebral palsy with loss of muscular coordination with abnormal force and rhythm, and impairment of accuracy; commonly presents with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus and other abnormal eye movements, and hypotonia. Low tone is a prominent feature. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Paraplegic cerebral palsy (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterised by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Choreic cerebral palsy (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
A form of dyskinetic cerebral palsy with a combination of chorea and athetosis; movements are irregular, but twisting and curving. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Mixed cerebral palsy Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral cerebral palsy (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
A form of spastic cerebral palsy affecting three limbs; this could be both arms and a leg, or both legs and an arm. In some instances, it has referred to one upper and one lower extremity and the face. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Pentaplegic cerebral palsy Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Horizontal gaze palsy with progressive scoliosis Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Paralytic syndrome of two limbs Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Paralytic syndrome of three limbs Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Paralytic syndrome on both sides of the body (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile ascending hereditary spastic paralysis (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Ophthalmoplegia due to Graves' disease Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Acute paralytic poliomyelitis Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 58 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 70 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Erb Duchenne palsy with neuroma due to birth trauma (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 7
A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
A pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 42 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 48 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
A pure form of hereditary spastic paraplegia characterised by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spastic paraplegia type 34 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 5A Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 12 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 19 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 28 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, pure or complex form of hereditary spastic paraplegia characterised by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, unsteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, facial cutaneous lesion syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 15 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 21 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 43 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
A pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraparesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 45 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 67 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Benign nocturnal alternating hemiplegia of childhood (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 59 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive progressive external ophthalmoplegia Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
External ophthalmoplegia (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive external ophthalmoplegia Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
SPOAN and SPOAN-related disorder Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive spastic paraplegia type 39 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 10
Flaccid diplegia of upper limbs Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic diplegia of upper limbs (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Diplegia of lower limbs (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic monoplegia of upper limb (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic monoplegia of lower limb (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Erb Duchenne palsy with neuropraxis due to traction birth trauma (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 6
X-linked spastic paraplegia type 2 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal dominant spastic paraplegia type 36 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 4 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterised by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 53 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 54 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 55 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 57 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 6
Functional monoparesis (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Functional paraparesis (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Functional hemiparesis (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 32 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 26 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 23 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 64 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 63 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 61 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with Paget disease of bone syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 18 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disc herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 10 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 6 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia with precocious puberty syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, nephritis, deafness syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 2
A complex hereditary spastic paraplegia characterised by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia type 7 (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 5
Fryns macrocephaly Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 7
Worster-Drought syndrome (WDS) is a form of cerebral palsy characterised by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 3
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 6
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. Interprets True Movement observable Inferred relationship Existential restriction modifier (core metadata concept) 4

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