312942003: hereditaire opticusneuropathie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\...

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

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

\Hereditary disorder of the visual system (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy

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

Descriptions:

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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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
74361000146117	hereditaire opticusneuropathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
970451000146114	hereditaire opticusneuropathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)