18234004: Optic nerve structure (body structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\...

\Body system structure\Structure of subdivision of organ system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)\Central nervous system part\Structure of central sensory visual system (body structure)\Visual pathway structure\Optic nerve structure
\Body system structure\Structure of special senses organ system\The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways\Structure of central sensory visual system (body structure)\Visual pathway structure\Optic nerve structure
\Body system structure\Structure of nervous system (body structure)\Structure of subdivision of nervous system (body structure)\Structure of central nervous system (body structure)\Central nervous system part\Structure of central sensory visual system (body structure)\Visual pathway structure\Optic nerve structure
\Body system structure\Structure of nervous system (body structure)\Nervous system pathway structure\Sensory pathway structure\Visual pathway structure\Optic nerve structure
\Body system structure\Structure of nervous system (body structure)\Structure of sensory nervous system (body structure)\Structure of central sensory visual system (body structure)\Visual pathway structure\Optic nerve structure
\Body system structure\Structure of nervous system (body structure)\Structure of sensory nervous system (body structure)\Sensory pathway structure\Visual pathway structure\Optic nerve structure
\Body system structure\Structure of nervous system (body structure)\Nerve structure\Cranial nerve structure\Optic nerve structure

\Body region structure\Structure of half of body lateral to midsagittal plane (body structure)\Cranial nerve structure\Optic nerve 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

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
Optic nerve hypoplasia due to endocrine deficiency	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Late congenital syphilitic optic atrophy	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.	Finding site	True	Optic nerve structure	Inferred relationship	Some	2
A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype.	Finding site	True	Optic nerve structure	Inferred relationship	Some	5
Optic neuropathy due to micronutrient deficiency	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Disorder of optic nerve due to thiamine deficiency (disorder)	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
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.	Finding site	True	Optic nerve structure	Inferred relationship	Some	2
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	True	Optic nerve structure	Inferred relationship	Some	2
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	True	Optic nerve structure	Inferred relationship	Some	2
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	True	Optic nerve structure	Inferred relationship	Some	2
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	True	Optic nerve structure	Inferred relationship	Some	2
A rare, severe, genetic, neurometabolic disease characterized by infantile-onset of progressive neurodevelopmental regression, optic atrophy with nystagmus and diffuse white matter disease. Affected individuals usually have central hypotonia that progresses to limb spasticity and hyperreflexia, eventually resulting in a vegetative state. Recurrent chest infections are frequently associated and seizures (usually generalized tonic-clonic) may occasionally be observed. Brain magnetic resonance imaging shows diffuse bilateral symmetric abnormalities in the cerebral periventricular white matter, with variable lesions in other areas but sparing the basal ganglia.	Finding site	True	Optic nerve structure	Inferred relationship	Some	5
Posterior ischemic optic neuropathy due to arteritis (disorder)	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy.	Finding site	True	Optic nerve structure	Inferred relationship	Some	3
A rare mitochondrial disease characterized by bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Primary malignant ependymoma of optic nerve	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Primary malignant ependymoma of optic nerve	Finding site	False	Optic nerve structure	Inferred relationship	Some	2
Idiopathic optic neuritis	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Non-arteritic posterior ischemic optic neuropathy	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Optic neuritis due to demyelinating disease	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Post-vaccination optic neuropathy	Finding site	True	Optic nerve structure	Inferred relationship	Some	2
X-linked optic atrophy	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation, craniofacial dysmorphism, which includes a progeroid facial appearance, brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area, narrow forehead, prominent glabella, small orbit, slight bilateral exophthalmos, straight nose, hypoplastic cheekbones, long philtrum and thin lips, skeletal abnormalities (i.e. micromelia, brachydactyly, and severe short stature with short limbs), normal intelligence, Pelger-Huët anomaly of leukocytes, loose skin with decreased tissue turgor, and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age, late ossification and/or osteoporosis.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Primary malignant astrocytoma of optic nerve (disorder)	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
A rare developmental defect during embryogenesis characterized by congenital absence of the optic nerve head, optic nerve fibers, retinal ganglion cells, and retinal blood vessels in a malformed eye. It often occurs unilaterally with otherwise normal brain development. In bilateral cases it is accompanied by other central nervous system malformations.	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Length of optic nerve in specimen (observable entity)	This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends.	False	Optic nerve structure	Inferred relationship	Some	3
A rare syndromic optic nerve hypoplasia with characteristics of coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.	Finding site	True	Optic nerve structure	Inferred relationship	Some	6
Length of optic nerve in specimen (observable entity)	This attribute specifies the independent continuant which bears the quality, and on which the dependent quality (of this observable) depends.	True	Optic nerve structure	Inferred relationship	Some	1
Disorder of optic nerve caused by radiation (disorder)	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Tram track sign of optic nerve (finding)	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Non-arteritic anterior ischaemic optic neuropathy	Finding site	True	Optic nerve structure	Inferred relationship	Some	1
Idiopathic non-arteritic anterior ischaemic optic neuropathy	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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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