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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

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

This concept is not in any reference sets

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