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312942003: Inherited optic neuropathy (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy

\Eye / vision finding\Visual system disorder\...

\Hereditary disorder of the visual system\Inherited optic neuropathy

\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy
\Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy

Status: current, Defined. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

456757015 Inherited optic neuropathy en Synonym Active Case insensitive SNOMED CT core

709669019 Inherited optic neuropathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Inherited optic neuropathy	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Some
Inherited optic neuropathy	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Inherited optic neuropathy	Is a	Optic neuropathy	false	Inferred relationship	Some
Inherited optic neuropathy	Is a	Disorder of optic nerve	true	Inferred relationship	Some
Inherited optic neuropathy	Finding site	Optic nerve structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Optic nerve oedema, splenomegaly syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome	Is a	False	Inherited optic neuropathy	Inferred relationship	Some
Infantile cerebellar and retinal degeneration	Is a	False	Inherited optic neuropathy	Inferred relationship	Some
Hereditary optic atrophy	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Acro-oto-ocular syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Isolated optic nerve hypoplasia	Is a	True	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	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Polymicrogyria with optic nerve hypoplasia	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Diabetes mellitus AND insipidus with optic atrophy AND deafness	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	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Autosomal recessive isolated optic atrophy	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	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Multiple mitochondrial dysfunctions syndrome type 4	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
PLAA-associated neurodevelopmental disorder	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Auditory neuropathy, optic atrophy syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Dominant hereditary optic atrophy	Is a	False	Inherited optic neuropathy	Inferred relationship	Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
GAPO syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Spastic paraplegia type 2	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
CAMOS syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy syndrome	Is a	True	Inherited optic neuropathy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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