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312942003: Inherited optic neuropathy (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
456757015 Inherited optic neuropathy en Synonym Active Entire term case insensitive SNOMED CT core module
709669019 Inherited optic neuropathy (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

56 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited optic neuropathy Is a Optic neuropathy false Inferred relationship Existential restriction modifier
Inherited optic neuropathy Finding site Optic nerve structure true Inferred relationship Existential restriction modifier 1
Inherited optic neuropathy Is a Disorder of optic nerve true Inferred relationship Existential restriction modifier
Inherited optic neuropathy Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Inherited optic neuropathy Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Dominant hereditary optic atrophy Is a False Inherited optic neuropathy Inferred relationship Existential restriction modifier
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
X-linked spastic paraplegia type 2 Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Optic nerve edema, splenomegaly syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome Is a False Inherited optic neuropathy Inferred relationship Existential restriction modifier
Infantile cerebellar and retinal degeneration Is a False Inherited optic neuropathy Inferred relationship Existential restriction modifier
Hereditary optic atrophy Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Acrootoocular syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Isolated optic nerve hypoplasia Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Combined immunodeficiency with faciooculoskeletal anomalies syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Polymicrogyria with optic nerve hypoplasia Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Diabetes mellitus AND insipidus with optic atrophy AND deafness Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Colobomatous macrophthalmia with microcornea syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Autosomal recessive isolated optic atrophy Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Familial cavitary optic disc anomaly Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Multiple mitochondrial dysfunctions syndrome type 4 Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Phospholipase A2 activating protein-associated neurodevelopmental disorder Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Auditory neuropathy, optic atrophy syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome Is a True Inherited optic neuropathy Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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