26360005: hereditaire opticusatrofie (aandoening)

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

\Central nervous system finding\Disorder of the central nervous system (disorder)\...

\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy

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

\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy

\Disorder of visual pathways\Disorder of optic nerve\...

\Inherited optic neuropathy\Hereditary optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy
\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\Hereditary optic atrophy
\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\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary optic atrophy	Is a	Primary optic atrophy	true	Inferred relationship	Some
Hereditary optic atrophy	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hereditary optic atrophy	Is a	Hereditary disorder of the visual system (disorder)	false	Inferred relationship	Some
Hereditary optic atrophy	Associated morphology	Primary atrophy	false	Inferred relationship	Some	1
Hereditary optic atrophy	Finding site	Optic nerve structure	false	Inferred relationship	Some	1
Hereditary optic atrophy	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Hereditary optic atrophy	Associated morphology	Primary atrophy	true	Inferred relationship	Some	1
Hereditary optic atrophy	Is a	Inherited optic neuropathy	true	Inferred relationship	Some
Hereditary optic atrophy	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hereditary motor and sensory neuropathy with optic atrophy	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Dominant hereditary optic atrophy	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Leber's optic atrophy	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Hereditary optic atrophy NOS	Is a	False	Hereditary optic atrophy	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Is a	False	Hereditary optic atrophy	Inferred relationship	Some
Hereditary right optic atrophy (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Hereditary left optic atrophy (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Is a	False	Hereditary optic atrophy	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Infantile cerebellar and retinal degeneration (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Autosomal recessive optic atrophy type 7 (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Arts syndrome	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Autosomal recessive optic atrophy type 6	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Childhood-onset autosomal dominant optic atrophy	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
X-linked optic atrophy	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)	Is a	True	Hereditary optic atrophy	Inferred relationship	Some
autosomaal recessieve geïsoleerde opticusatrofie	Is a	False	Hereditary optic atrophy	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
44142012	Hereditary optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
44143019	Hereditary optic atrophy, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
756783015	Hereditary optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1558051000146112	hereditaire opticusatrofie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1558061000146110	hereditaire opticusatrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2301661000146115	erfelijke opticusatrofie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)