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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
A form of spastic cerebral palsy affecting two limbs; usually the legs are affected more than the arms. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Facial palsy as birth trauma Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegic cerebral palsy affecting upper limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Monoplegic cerebral palsy affecting lower limb Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Dyskinetic cerebral palsy Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Paraplegic cerebral palsy (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
A form of dyskinetic cerebral palsy with involuntary movements accompanied by an abnormal, sustained posture. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Choreic cerebral palsy (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Mixed cerebral palsy Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Bilateral cerebral palsy (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Pentaplegic cerebral palsy Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Horizontal gaze palsy with progressive scoliosis Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Paralytic syndrome of two limbs Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Paralytic syndrome of three limbs Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Paralytic syndrome on both sides of the body (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile ascending hereditary spastic paralysis (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Ophthalmoplegia due to Graves' disease Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Acute paralytic poliomyelitis Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 58 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 70 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal atrophy, ophthalmoplegia, pyramidal syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Erb Duchenne palsy with neuroma due to birth trauma (disorder) Has interpretation True Absent 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. Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 42 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 48 (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked spastic paraplegia type 34 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive spastic paraplegia type 5A Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 12 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 19 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 28 Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, neuropathy, poikiloderma syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, facial cutaneous lesion syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 15 (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive external ophthalmoplegia, myopathy, emaciation syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 21 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 43 (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 45 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 67 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Benign nocturnal alternating hemiplegia of childhood (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive spastic paraplegia type 59 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant progressive external ophthalmoplegia (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive progressive external ophthalmoplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
External ophthalmoplegia (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Progressive external ophthalmoplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
SPOAN and SPOAN-related disorder Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Hereditary sensory and autonomic neuropathy with spastic paraplegia Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive spastic paraplegia type 39 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 10
Flaccid diplegia of upper limbs Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic diplegia of upper limbs (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Diplegia of lower limbs (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic monoplegia of upper limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic monoplegia of lower limb (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Erb Duchenne palsy with neuropraxis due to traction birth trauma (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
X-linked spastic paraplegia type 2 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal dominant spastic paraplegia type 36 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 4 (disorder) Has interpretation True Absent 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. Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 53 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 54 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 55 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive spastic paraplegia type 57 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Functional monoparesis (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Functional paraparesis (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Functional hemiparesis (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive spastic paraplegia type 32 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 26 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 23 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 64 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 63 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive spastic paraplegia type 61 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia with Paget disease of bone syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive spastic paraplegia type 18 (disorder) Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal dominant spastic paraplegia type 10 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal dominant spastic paraplegia type 6 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia with precocious puberty syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal dominant spastic paraplegia type 29 Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, nephritis, deafness syndrome Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia type 7 (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 5
Fryns macrocephaly Has interpretation True Absent 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. Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 3
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 6
Mitochondrial neurogastrointestinal encephalomyopathy syndrome (disorder) Has interpretation True Absent Inferred relationship Existential restriction modifier (core metadata concept) 4

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