2667000: Absent (qualifier value)

SNOMED CT Concept\Qualifier value (qualifier value)\Finding value (qualifier value)\Absence findings\Absent

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
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
Acquired horizontal gaze palsy (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Ophthalmoplegia due to abetalipoproteinemia (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	5
Isolated acquired horizontal gaze palsy (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
A rare syndromic disorder with strabismus with characteristics of congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities among others.	Has interpretation	True	Absent	Inferred relationship	Some	4
Congenital horizontal gaze palsy (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Isolated congenital horizontal gaze paresis	Has interpretation	True	Absent	Inferred relationship	Some	4
Intermittent horizontal conjugate gaze deviation (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	6
Intermittent upward gaze deviation (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	6
Horizontal gaze preference (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	5
Ophthalmoplegia due to neuropathy (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Paralysis of downgaze	Has interpretation	True	Absent	Inferred relationship	Some	4
Paralysis of upgaze (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Combined paralysis of upgaze and downgaze	Has interpretation	True	Absent	Inferred relationship	Some	4
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.	Has interpretation	True	Absent	Inferred relationship	Some	1
Wall-eyed bilateral internuclear ophthalmoplegia syndrome (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Absence of placental secretion of chorionic gonadotropin	Has interpretation	True	Absent	Inferred relationship	Some	2
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).	Has interpretation	True	Absent	Inferred relationship	Some	9
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993.	Has interpretation	True	Absent	Inferred relationship	Some	13
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.	Has interpretation	True	Absent	Inferred relationship	Some	9
A rare genetic neurological disorder characterized by progressive spastic paraparesis and delayed gross motor development with an onset in infancy or early childhood. Patients also show variable degrees of intellectual disability, speech delay, and dysarthria. Other reported features include microcephaly, seizures, bifid uvula with or without cleft palate, and ocular anomalies. Brain imaging shows white matter abnormalities in the periventricular and other regions.	Has interpretation	True	Absent	Inferred relationship	Some	9
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	Has interpretation	True	Absent	Inferred relationship	Some	7
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss.	Has interpretation	True	Absent	Inferred relationship	Some	11
A form of non-spastic cerebral palsy with decreased muscle tone, noticeably floppy muscles with poor or no head control.	Has interpretation	True	Absent	Inferred relationship	Some	5
Allan-Herndon-Dudley syndrome	Has interpretation	True	Absent	Inferred relationship	Some	11
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.	Has interpretation	True	Absent	Inferred relationship	Some	9
Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.	Has interpretation	True	Absent	Inferred relationship	Some	10
Tardy left ulnar nerve palsy (finding)	Has interpretation	True	Absent	Inferred relationship	Some	2
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.	Has interpretation	True	Absent	Inferred relationship	Some	7
A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.	Has interpretation	True	Absent	Inferred relationship	Some	10
Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.	Has interpretation	True	Absent	Inferred relationship	Some	10
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982.	Has interpretation	True	Absent	Inferred relationship	Some	10
Vertical one-and-a-half syndrome (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Periodic alternating gaze deviation	Has interpretation	True	Absent	Inferred relationship	Some	4
Ophthalmoplegia due to phytanic acid storage disease (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Sustained upward gaze deviation (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Sustained horizontal conjugate gaze deviation, contralateral type (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	5
Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	5
Sustained horizontal conjugate gaze deviation	Has interpretation	True	Absent	Inferred relationship	Some	5
Paralytic shellfish poisoning	Has interpretation	True	Absent	Inferred relationship	Some	1
A rare endocrine disease characterized by severe chronic hypernatremic dehydration caused by decreased intake of water based on impaired thirst perception, due to a selective defect in hypothalamic osmoregulation of thirst. Structural hypothalamic lesions are absent and arginine vasopressin secretion is normal.	Has interpretation	True	Absent	Inferred relationship	Some	2
Traumatic loss of tooth	Has interpretation	True	Absent	Inferred relationship	Some	3
Autosomal dominant complex hereditary spastic paraplegia (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Congenital multi-minicore disease with external ophthalmoplegia (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported.	Has interpretation	True	Absent	Inferred relationship	Some	11
Andersen Tawil syndrome (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	1
A rare genetic peripheral neuropathy characterized by complete congenital insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic.	Has interpretation	True	Absent	Inferred relationship	Some	2
No active range of ankle dorsiflexion (finding)	Has interpretation	True	Absent	Inferred relationship	Some	1
No passive range of ankle dorsiflexion (finding)	Has interpretation	True	Absent	Inferred relationship	Some	1
No passive range of ankle plantar flexion	Has interpretation	True	Absent	Inferred relationship	Some	1
No active range of ankle plantar flexion (finding)	Has interpretation	True	Absent	Inferred relationship	Some	1
Tooth unerupted	Has interpretation	True	Absent	Inferred relationship	Some	2
Fisher's syndrome	Has interpretation	True	Absent	Inferred relationship	Some	2
Fisher's syndrome	Has interpretation	True	Absent	Inferred relationship	Some	5
Intumescent cataract	Has interpretation	True	Absent	Inferred relationship	Some	2
Congenital total cataract	Has interpretation	True	Absent	Inferred relationship	Some	3
Mature cataract	Has interpretation	True	Absent	Inferred relationship	Some	2
Total, mature senile cataract	Has interpretation	True	Absent	Inferred relationship	Some	2
Cataract-glaucoma syndrome is characterized by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.	Has interpretation	True	Absent	Inferred relationship	Some	4
Shrunken cataract	Has interpretation	True	Absent	Inferred relationship	Some	4
Hypermature cataract	Has interpretation	True	Absent	Inferred relationship	Some	2
Morgagnian cataract (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Hypermature senile cataract	Has interpretation	True	Absent	Inferred relationship	Some	3
Hypermature senile cataract of right eye (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Hypermature senile cataract of left eye (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Hypermature senile cataract of bilateral eyes (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	4
Lacunar ataxic hemiparesis	Has interpretation	True	Absent	Inferred relationship	Some	1
Lacunar ataxic hemiparesis of right dominant side	Has interpretation	True	Absent	Inferred relationship	Some	5
Lacunar ataxic hemiparesis of left dominant side	Has interpretation	True	Absent	Inferred relationship	Some	5
Lacunar ataxic hemiparesis of left nondominant side	Has interpretation	True	Absent	Inferred relationship	Some	5
Lacunar ataxic hemiparesis of right nondominant side	Has interpretation	True	Absent	Inferred relationship	Some	5
Pure motor lacunar infarction	Has interpretation	True	Absent	Inferred relationship	Some	1
Pure sensorimotor lacunar infarction	Has interpretation	True	Absent	Inferred relationship	Some	7
Pure sensorimotor lacunar infarction	Has interpretation	True	Absent	Inferred relationship	Some	1
Pure sensory lacunar infarction	Has interpretation	True	Absent	Inferred relationship	Some	1
Facial palsy House-Brackmann grade V of right facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade V of left facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade VI of left facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade VI of right facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade IV of left facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Right facial palsy House-Brackmann grade IV	Has interpretation	True	Absent	Inferred relationship	Some	2
Left facial palsy House-Brackmann grade III	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade III of right facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade II of left facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Facial palsy House-Brackmann grade II of right facial nerve (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	2
Anovulation	Has interpretation	True	Absent	Inferred relationship	Some	2
Progressive external ophthalmoplegia of left eye (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Right progressive external ophthalmoplegia	Has interpretation	True	Absent	Inferred relationship	Some	3
Drug induced central sleep apnea	Has interpretation	True	Absent	Inferred relationship	Some	2
Chest movement absent	Has interpretation	True	Absent	Inferred relationship	Some	1
Postoperative paralytic ileus (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	5
Functional intestinal obstruction due to decreased peristalsis (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	3
Paralytic ileus of the newborn	Has interpretation	True	Absent	Inferred relationship	Some	3
Infection-induced ileus	Has interpretation	True	Absent	Inferred relationship	Some	2
Dynamic ileus	Has interpretation	True	Absent	Inferred relationship	Some	1
Paralytic ileus	Has interpretation	True	Absent	Inferred relationship	Some	1
Spastic ileus of the newborn	Has interpretation	True	Absent	Inferred relationship	Some	3
Paralytic ileus of large intestine (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	1
Paralytic ileus of small intestine (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	1
Paralytic ileus of small intestine and colon (disorder)	Has interpretation	True	Absent	Inferred relationship	Some	1

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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