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312942003: Inherited optic neuropathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
456757015 Inherited optic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
709669019 Inherited optic neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
456757015 Inherited optic neuropathy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
456757015 Inherited optic neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
709669019 Inherited optic neuropathy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
709669019 Inherited optic neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
510321000274110 Hereditäre Neuropathie des Nervus opticus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
553001000274118 Hereditäre Optikusneuropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294041000241118 affection héréditaire du nerf crânien II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294051000241115 neuropathie optique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294061000241117 affection héréditaire du deuxième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294041000241118 affection héréditaire du nerf crânien II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294051000241115 neuropathie optique héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6294061000241117 affection héréditaire du deuxième nerf crânien fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
510321000274110 Hereditäre Neuropathie des Nervus opticus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
553001000274118 Hereditäre Optikusneuropathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

58 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited optic neuropathy (disorder) Is a Optic neuropathy false Inferred relationship Existential restriction modifier (core metadata concept)
Inherited optic neuropathy (disorder) Finding site Optic nerve structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inherited optic neuropathy (disorder) Is a Disorder of optic nerve true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited optic neuropathy (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inherited optic neuropathy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Dominant hereditary optic atrophy Is a False Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked spastic paraplegia type 2 (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Optic nerve edema, splenomegaly syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder) Is a False Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile cerebellar and retinal degeneration (disorder) Is a False Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary optic atrophy (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acro-oto-ocular syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Isolated hypoplasia of optic nerve (disorder) Is a False Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndrome with characteristics of 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. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wolfram syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive isolated optic atrophy (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial cavitary optic disc anomaly (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple mitochondrial dysfunctions syndrome type 4 (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Is a True Inherited optic neuropathy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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