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18234004: Optic nerve structure (body structure)


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
30796011 Optic nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
30798012 Second cranial nerve en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
478520018 Optic nerve structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
745628017 Optic nerve structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1222038013 Cranial nerve II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1222039017 Optic nerve (II) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2579139013 ON - Optic nerve en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


29 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Optic nerve structure Is a Visual pathway structure true Inferred relationship Some
Optic nerve structure Is a Cranial nerve structure true Inferred relationship Some
Optic nerve structure partie de Entire visual system false Additional relationship Some
Optic nerve structure partie de Entire head false Additional relationship Some
Optic nerve structure partie de Entire nervous system false Additional relationship Some
Optic nerve structure Laterality Side (qualifier value) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Intraocular optic nerve glioma (disorder) Finding site False Optic nerve structure Inferred relationship Some 1
Neoplasm of uncertain behavior of optic nerve Finding site True Optic nerve structure Inferred relationship Some 1
Primary optic atrophy Finding site True Optic nerve structure Inferred relationship Some 1
Paraneoplastic optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Excision of lesion of optic nerve (II) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 2
Repair of optic nerve (II) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 1
Compressive optic atrophy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Primary malignant neoplasm of optic nerve Finding site True Optic nerve structure Inferred relationship Some 1
Dominant hereditary optic atrophy Finding site True Optic nerve structure Inferred relationship Some 1
Optic atrophy associated with retinal dystrophy Finding site True Optic nerve structure Inferred relationship Some 1
Injection of optic nerve (procedure) Procedure site - Indirect (attribute) True Optic nerve structure Inferred relationship Some 1
Secondary optic atrophy Finding site True Optic nerve structure Inferred relationship Some 1
Optic atrophy secondary to retinal disease Finding site True Optic nerve structure Inferred relationship Some 1
Foster-Kennedy syndrome Finding site True Optic nerve structure Inferred relationship Some 1
Hereditary optic atrophy Finding site True Optic nerve structure Inferred relationship Some 1
Optic atrophy Finding site True Optic nerve structure Inferred relationship Some 1
Exploration of optic nerve (II) (procedure) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 1
Radial optic neurotomy (procedure) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 1
Optic nerve glioma Finding site True Optic nerve structure Inferred relationship Some 1
Benign neoplasm of optic nerve Finding site True Optic nerve structure Inferred relationship Some 1
Optic neuritis Finding site True Optic nerve structure Inferred relationship Some 1
Malignant optic glioma (disorder) Finding site False Optic nerve structure Inferred relationship Some 1
Compressive optic neuropathy due to thyroid eye disease (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Hereditary optic atrophy NOS Finding site False Optic nerve structure Inferred relationship Some 1
radiolésion du nerf optique Finding site False Optic nerve structure Inferred relationship Some 1
Intracranial transection of optic nerve (II) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 1
Incipient prechiasmal optic nerve compression syndrome Finding site True Optic nerve structure Inferred relationship Some 1
Intracranial stereotactic neurolysis of optic nerve (II) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 1
A rare, genetic, endocrine disorder characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Finding site False Optic nerve structure Inferred relationship Some 1
Endoscopy of nasal sinus with decompression of optic nerve (procedure) Procedure site - Direct (attribute) False Optic nerve structure Inferred relationship Some 2
Endoscopy of nasal sinus with decompression of optic nerve (procedure) Procedure site - Direct (attribute) True Optic nerve structure Inferred relationship Some 2
Endoscopic decompression of optic nerve Procedure site - Direct (attribute) False Optic nerve structure Inferred relationship Some 1
Endoscopic decompression of optic nerve Procedure site - Direct (attribute) False Optic nerve structure Inferred relationship Some 1
Septo-optic dysplasia sequence Finding site False Optic nerve structure Inferred relationship Some 5
Hypoplasia of the optic nerve Finding site False Optic nerve structure Inferred relationship Some 3
Partial hypoplasia of optic disc Finding site False Optic nerve structure Inferred relationship Some 3
Congenital anomaly of optic nerve Finding site False Optic nerve structure Inferred relationship Some 2
Malignant optic glioma (disorder) Finding site False Optic nerve structure Inferred relationship Some 2
Malignant optic glioma of adulthood Finding site False Optic nerve structure Inferred relationship Some 3
A rare neuro-ophthalmological disease associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia or multiple-sclerosis like illness. Finding site True Optic nerve structure Inferred relationship Some 1
Oculocerebral dysplasia syndrome Finding site False Optic nerve structure Inferred relationship Some 3
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. Finding site True Optic nerve structure Inferred relationship Some 1
A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. Finding site True Optic nerve structure Inferred relationship Some 2
Behr syndrome Finding site False Optic nerve structure Inferred relationship Some 1
A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias. Finding site True Optic nerve structure Inferred relationship Some 2
A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. It is caused by mutations in the OPA3 gene (19q13.32). Finding site True Optic nerve structure Inferred relationship Some 2
Optic neuropathy due to folate deficiency (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. Finding site True Optic nerve structure Inferred relationship Some 3
Infection causing inflammation of optic nerve (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterised by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. Finding site True Optic nerve structure Inferred relationship Some 2
Disorder of optic nerve due to and following radiotherapy (disorder) Finding site True Optic nerve structure Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site False Optic nerve structure Inferred relationship Some 7
Meningococcal optic neuritis Finding site False Optic nerve structure Inferred relationship Some 2
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Finding site False Optic nerve structure Inferred relationship Some 5
Aplasia of optic nerve (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Congenital atrophy of optic nerve (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Perioperative secondary non-arteritic ischemic optic neuropathy (disorder) Finding site False Optic nerve structure Inferred relationship Some
A rare, X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. Finding site False Optic nerve structure Inferred relationship Some 4
Structure of left optic nerve (body structure) Is a True Optic nerve structure Inferred relationship Some
Structure of right optic nerve (body structure) Is a True Optic nerve structure Inferred relationship Some
A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. Finding site False Optic nerve structure Inferred relationship Some 6
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Finding site False Optic nerve structure Inferred relationship Some 5
A rare developmental defect during embryogenesis characterised by underdevelopment of the optic nerve with a subnormal number of optic nerve axons. The condition may be unilateral or bilateral and can occur as an isolated defect or accompany other ocular or cerebral abnormalities. Funduscopic examination reveals a small optic disc, often associated with the double-ring sign, a ring of hypo- or hyperpigmentation surrounding the disc. Clinically, vision may be severely impaired or remain unaffected. Finding site True Optic nerve structure Inferred relationship Some 1
Malignant optic glioma of adulthood Finding site False Optic nerve structure Inferred relationship Some 1
Ischemic optic neuropathy Finding site True Optic nerve structure Inferred relationship Some 1
Arteritic ischemic optic neuropathy Finding site True Optic nerve structure Inferred relationship Some 1
Non-arteritic ischaemic optic neuropathy Finding site True Optic nerve structure Inferred relationship Some 1
Anterior ischemic optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Posterior ischemic optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Perioperative secondary non-arteritic ischemic optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Arteritic anterior ischemic optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. Finding site True Optic nerve structure Inferred relationship Some 7
A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. Finding site True Optic nerve structure Inferred relationship Some 4
A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). Finding site True Optic nerve structure Inferred relationship Some 1
Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. Finding site True Optic nerve structure Inferred relationship Some 1
Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. Finding site True Optic nerve structure Inferred relationship Some 1
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. Finding site True Optic nerve structure Inferred relationship Some 1
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. Finding site True Optic nerve structure Inferred relationship Some 1
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Finding site True Optic nerve structure Inferred relationship Some 3
Oculocerebral dysplasia syndrome Finding site False Optic nerve structure Inferred relationship Some 1
Septo-optic dysplasia sequence Finding site False Optic nerve structure Inferred relationship Some 2
A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. Finding site True Optic nerve structure Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations. Finding site True Optic nerve structure Inferred relationship Some 1
A rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. Finding site True Optic nerve structure Inferred relationship Some 3
A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. Finding site True Optic nerve structure Inferred relationship Some 1
Alcohol related optic neuropathy Finding site True Optic nerve structure Inferred relationship Some 1
A rare, genetic, autosomal recessive spastic ataxia disease characterized by onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Finding site True Optic nerve structure Inferred relationship Some 1
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Finding site True Optic nerve structure Inferred relationship Some 1
Neuromyelitis optica Finding site True Optic nerve structure Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial. Finding site False Optic nerve structure Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. Finding site False Optic nerve structure Inferred relationship Some 3
A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. Finding site True Optic nerve structure Inferred relationship Some 2
Arteritic anterior ischemic optic neuropathy due to giant cell arteritis (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Autosomal recessive optic atrophy type 6 Finding site True Optic nerve structure Inferred relationship Some 1
Autoimmune optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Childhood-onset autosomal dominant optic atrophy Finding site True Optic nerve structure Inferred relationship Some 1
Idiopathic non-arteritic posterior ischemic optic neuropathy (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
neuropathie optique ischémique non artéritique idiopathique Finding site False Optic nerve structure Inferred relationship Some 1
Optic atrophy due to late syphilis (disorder) Finding site True Optic nerve structure Inferred relationship Some 1
Hypoplasia of optic nerve due to central nervous system malformation Finding site True Optic nerve structure Inferred relationship Some 1
Optic nerve hypoplasia due to endocrine deficiency Finding site True Optic nerve structure Inferred relationship Some 1

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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