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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
5527017 Absent en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Absent Is a General adjectival modifier false Inferred relationship Existential restriction modifier (core metadata concept)
Absent Is a Absence findings true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachial plexus palsy due to birth trauma (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paralysis due to intracranial birth injury Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Phrenic nerve paralysis as birth trauma (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paralysis due to birth injury Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paralysis due to spinal birth injury Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Klumpke-Déjerine paralysis as birth trauma Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Erb-Duchenne palsy as birth trauma Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Upward gaze deviation (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of leg dominant side as sequela of cerebrovascular disease (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Monoplegia of left dominant lower limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of left nondominant lower limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of right dominant lower limb Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of right nondominant lower limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic hemiplegia of left dominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic hemiplegia of left nondominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic hemiplegia of right dominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic hemiplegia of right nondominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Monoplegia of lower limb as sequela of cerebrovascular accident Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Monoplegia of left nondominant upper limb due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Monoplegia of right nondominant upper limb due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Monoplegia of arm as late effect of stroke Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Flaccid hemiplegia of left dominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Flaccid hemiplegia of left nondominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Flaccid hemiplegia of right dominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Flaccid hemiplegia of right nondominant side Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Hemiplegia of left dominant side (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Hemiplegia of left nondominant side Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Hemiplegia of right dominant side Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Hemiplegia of right nondominant side Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Monoplegia of right upper limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of left upper limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Hemiplegia of nondominant side due to and following ischemic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Hemiplegia of dominant side as sequela of ischaemic cerebrovascular accident Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Paraplegia due to and following cerebrovascular accident (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Acute paralytic poliomyelitis, vaccine-associated Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Acute bulbar poliomyelitis caused by Human poliovirus 2 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Acute bulbar poliomyelitis caused by Human poliovirus 1 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Acute paralytic poliomyelitis due to Human poliovirus 1 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Acute paralytic poliomyelitis caused by Human poliovirus 2 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Acute paralytic poliomyelitis due to Human poliovirus 3 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital fibrosis of inferior rectus muscle Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Severe intellectual disability and progressive spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 27 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
MT-ATP6-related mitochondrial spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 3 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 69 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 71 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal spastic paraplegia type 72 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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 Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of 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 Existential restriction modifier (core metadata concept) 4
Inherited congenital spastic tetraplegia (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 14 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal dominant spastic paraplegia type 38 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spastic paraplegia type 16 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal dominant spastic paraplegia type 13 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 56 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 24 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 8 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Progressive external ophthalmoplegia of bilateral eyes (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Hemiparesis of left side of face (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 1
Hemiparesis of right side of face (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 1
Benedikt's syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia type 1 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Atypical progressive supranuclear palsy syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked complex hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked pure hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive supranuclear palsy corticobasal syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive supranuclear palsy parkinsonism syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Progressive supranuclear palsy progressive non fluent aphasia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Exophthalmic ophthalmoplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Monoparesis of lower limb Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Hemiplegia and/or hemiparesis following stroke Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Hemiparesis as late effect of cerebrovascular disease Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegia of arm dominant side as sequela of cerebrovascular disease Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare complex hereditary spastic paraplegia characterised 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 74 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked hereditary spastic paraplegia (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive hereditary spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 9B (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 9A Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 73 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 75 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 77 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 78 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 10
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4

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