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2667000: Absent (qualifier value)

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
5527017 Absent en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5528010 Absence of en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
757146018 Absent (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1820381000195115 assente it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
45821000188114 absence fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
88551000077110 absent fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
2282091000195117 Abwesend de Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absent Is a General adjectival modifier false Inferred relationship Some
Absent Is a Absence findings true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. Has interpretation True Absent Inferred relationship Some 4
A rare late-onset neurodegenerative disease characterised by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. Has interpretation True Absent Inferred relationship Some 4
Brachial plexus palsy due to birth trauma Has interpretation True Absent Inferred relationship Some 4
Spastic paralysis due to intracranial birth injury Has interpretation True Absent Inferred relationship Some 5
Phrenic nerve paralysis as birth trauma Has interpretation True Absent Inferred relationship Some 4
Spastic paralysis due to birth injury Has interpretation True Absent Inferred relationship Some 5
Spastic paralysis due to spinal birth injury Has interpretation True Absent Inferred relationship Some 5
Klumpke-Déjerine paralysis as birth trauma Has interpretation True Absent Inferred relationship Some 4
Erb-Duchenne palsy as birth trauma Has interpretation True Absent Inferred relationship Some 5
Upward gaze deviation (disorder) Has interpretation True Absent Inferred relationship Some 4
Monoplegia of leg dominant side as sequela of cerebrovascular disease (disorder) Has interpretation True Absent Inferred relationship Some 5
Monoplegia of left dominant lower limb (disorder) Has interpretation True Absent Inferred relationship Some 4
Monoplegia of left nondominant lower limb (disorder) Has interpretation True Absent Inferred relationship Some 4
Monoplegia of right dominant lower limb (disorder) Has interpretation True Absent Inferred relationship Some 4
Monoplegia of right nondominant lower limb (disorder) Has interpretation True Absent Inferred relationship Some 4
Spastic hemiplegia of left dominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Spastic hemiplegia of left nondominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Spastic hemiplegia of right dominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Spastic hemiplegia of right nondominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Monoplegia of lower limb due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 6
Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 5
Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 5
Monoplegia of upper limb due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 6
Flaccid hemiplegia of left dominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Flaccid hemiplegia of left nondominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Flaccid hemiplegia of right dominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Flaccid hemiplegia of right nondominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Hemiplegia of left dominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Hemiplegia of left nondominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Hemiplegia of right dominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Hemiplegia of right nondominant side (disorder) Has interpretation True Absent Inferred relationship Some 3
Monoplegia of right upper limb (disorder) Has interpretation True Absent Inferred relationship Some 4
Monoplegia of left upper limb (disorder) Has interpretation True Absent Inferred relationship Some 4
Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 4
Hemiplegia of dominant side due to and following ischemic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 4
Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 5
Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 4
Paraplegia due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Some 3
Acute paralytic poliomyelitis, vaccine-associated Has interpretation True Absent Inferred relationship Some 4
Acute bulbar poliomyelitis caused by Human poliovirus 2 Has interpretation True Absent Inferred relationship Some 3
Acute bulbar poliomyelitis caused by Human poliovirus 1 Has interpretation True Absent Inferred relationship Some 3
Acute paralytic poliomyelitis caused by Human poliovirus 1 (disorder) Has interpretation True Absent Inferred relationship Some 3
Acute paralytic poliomyelitis caused by Human poliovirus 2 Has interpretation True Absent Inferred relationship Some 3
Acute paralytic poliomyelitis caused by Human poliovirus 3 (disorder) Has interpretation True Absent Inferred relationship Some 3
Congenital fibrosis of inferior rectus muscle (disorder) Has interpretation True Absent Inferred relationship Some 4
A rare complex hereditary spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter. Has interpretation True Absent Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. Has interpretation True Absent Inferred relationship Some 4
A rare complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. Has interpretation True Absent Inferred relationship Some 4
A rare, pure or complex form of hereditary spastic paraplegia, with variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, scoliosis, sphincter disturbances and/or urinary bladder hyperactivity. Rare additional associated manifestations may include mild intellectual disability, axonal motor neuropathy, and seizures. Has interpretation True Absent Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated. Has interpretation True Absent Inferred relationship Some 4
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment. Has interpretation True Absent Inferred relationship Some 4
A type of autosomal recessive pure hereditary spastic paraplegia characterized by infancy onset of crural spastic paraparesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal. Has interpretation True Absent Inferred relationship Some 2
A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles. Has interpretation True Absent Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. Has interpretation True Absent Inferred relationship Some 4
A rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. Has interpretation True Absent Inferred relationship Some 4
Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. Has interpretation True Absent Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated. Has interpretation True Absent Inferred relationship Some 4
A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. Has interpretation True Absent Inferred relationship Some 7
A complex hereditary spastic paraplegia characterised by mild to severe lower limb spasticity, hyperreflexia, extensor plantar responses, impaired vibration sensation, pes cavus, and significant wasting and weakness of the small hand muscles. Temporal lobe epilepsy and cognitive dysfunction have been also reported. Has interpretation True Absent Inferred relationship Some 2
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males. Has interpretation True Absent Inferred relationship Some 6
A rare, pure or complex form of hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the upper and lower limbs, and decreased vibration sense. Has interpretation True Absent Inferred relationship Some 2
A rare form of hereditary spastic paraplegia characterized by delayed walking, toe walking, unsteady and spastic gait, hyperreflexia of the lower limbs, and extensor plantar responses. Upper limbs spasticity and dystonia, subclinical axonal neuropathy, cognitive impairment and intellectual disability have also been associated. Has interpretation True Absent Inferred relationship Some 4
A very rare, pure form of spastic paraplegia characterized by an onset in infancy of lower limb spasticity associated with gait disturbances, scissor gait, tiptoe walking, clonus and increased deep tendon reflexes. Mild upper limb involvement may occasionally also be associated. Has interpretation True Absent Inferred relationship Some 2
A rare, pure or complex form of hereditary spastic paraplegia characterized by early adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities. It may be associated with complicating signs, such as sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Has interpretation True Absent Inferred relationship Some 3
A rare, genetic, non-dystrophic myopathy disease characterized by childhood-onset severe external ophthalmoplegia, typically without ptosis, associated with mild, very slowly progressive muscular weakness and atrophy, involving the facial, neck flexor and limb (upper > lower, proximal > distal) muscles. Muscle biopsy shows type 1 fiber uniformity, absent, or abnormally small, type 2A fibers, increased variability of fiber size, internalized nuclei and/or fatty infiltration. Has interpretation True Absent Inferred relationship Some 6
Bilateral progressive external ophthalmoplegia Has interpretation True Absent Inferred relationship Some 5
Hemiparesis of left side of face (disorder) Has interpretation True Absent Inferred relationship Some 1
Hemiparesis of right side of face (disorder) Has interpretation True Absent Inferred relationship Some 1
Benedikt's syndrome (disorder) Has interpretation True Absent Inferred relationship Some 4
Autosomal dominant progressive external ophthalmoplegia type 5 Has interpretation True Absent Inferred relationship Some 4
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) Has interpretation True Absent Inferred relationship Some 4
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) Has interpretation True Absent Inferred relationship Some 4
Autosomal dominant progressive external ophthalmoplegia type 1 (disorder) Has interpretation True Absent Inferred relationship Some 4
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) Has interpretation True Absent Inferred relationship Some 4
Atypical progressive supranuclear palsy syndrome Has interpretation True Absent Inferred relationship Some 4
X-linked complex hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Some 4
X-linked pure hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Some 2
Progressive supranuclear palsy corticobasal syndrome (disorder) Has interpretation True Absent Inferred relationship Some 4
Progressive supranuclear palsy parkinsonism syndrome (disorder) Has interpretation True Absent Inferred relationship Some 5
Progressive supranuclear palsy progressive non fluent aphasia Has interpretation True Absent Inferred relationship Some 4
Exophthalmic ophthalmoplegia Has interpretation True Absent Inferred relationship Some 3
Monoparesis of lower limb Has interpretation True Absent Inferred relationship Some 3
Hemiplegia and/or hemiparesis following stroke Has interpretation True Absent Inferred relationship Some 4
Hemiparesis as late effect of cerebrovascular disease Has interpretation True Absent Inferred relationship Some 4
Monoplegia of arm dominant side as sequela of cerebrovascular disease Has interpretation True Absent Inferred relationship Some 5
A rare complex hereditary spastic paraplegia characterized by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. Has interpretation True Absent Inferred relationship Some 8
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. Has interpretation True Absent Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. Has interpretation True Absent Inferred relationship Some 4
Hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Some 1
Autosomal dominant hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Some 1
X-linked hereditary spastic paraplegia (disorder) Has interpretation True Absent Inferred relationship Some 3
Autosomal recessive hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Some 3
A rare predominantly pure hereditary spastic paraplegia characterized by juvenile or adult onset of slowly progressive spastic paraparesis, gait disturbances, and increased tendon reflexes. Additional variable manifestations include pes cavus, dysarthria, sensory impairment, and urinary symptoms. Cognition is normal. Has interpretation True Absent Inferred relationship Some 3
A rare complex hereditary spastic paraplegia characterized by juvenile to adult onset of slowly progressive spasticity mainly affecting the lower limbs, associated with spastic dysarthria and motor neuropathy. Additional manifestations include congenital bilateral cataract, gastroesophageal reflux, persistent vomiting, mild cerebellar signs, pes cavus, and occasionally short stature, among others. Has interpretation True Absent Inferred relationship Some 3
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. Has interpretation True Absent Inferred relationship Some 4
A pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. Has interpretation True Absent Inferred relationship Some 3
A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported. Has interpretation True Absent Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated. Has interpretation True Absent Inferred relationship Some 4
A rare autosomal recessive complex spastic paraplegia characterized by mostly adult-onset progressive spasticity and weakness predominantly affecting the lower limbs, axonal motor and sensory neuropathy, and cerebellar symptoms like ataxia, dysarthria, and oculomotor abnormalities. Variable degrees of cognitive impairment may also be present. Subtle extrapyramidal involvement and supranuclear gaze palsy were reported in some cases. Features on brain imaging include cerebral and cerebellar atrophy and sometimes abnormalities of the corpus callosum or basal ganglia. Has interpretation True Absent Inferred relationship Some 4
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. Has interpretation True Absent Inferred relationship Some 10
A rare genetic neurological disorder characterized by neonatal onset of rigidity and intractable seizures, with episodic jerking already beginning in utero. Affected infants have small heads, remain visually inattentive, do not feed independently, and make no developmental progress. Frequent spontaneous apnea and bradycardia usually culminate in cardiopulmonary arrest and death in infancy, although some cases were described with a milder clinical course and survival into childhood. Has interpretation True Absent Inferred relationship Some 4

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