1231634003: X-gebonden 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\X-linked optic atrophy
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy

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

\Inherited optic neuropathy\Hereditary optic atrophy\X-linked optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy

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

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

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

\Inherited optic neuropathy\Hereditary optic atrophy\X-linked optic atrophy

\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
X-linked optic atrophy	Is a	X-linked hereditary disease	true	Inferred relationship	Some
X-linked optic atrophy	Is a	Hereditary optic atrophy	true	Inferred relationship	Some
X-linked optic atrophy	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
X-linked optic atrophy	Associated morphology	Primary atrophy	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Early-onset X-linked optic atrophy (disorder)	Is a	True	X-linked optic atrophy	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
5073678011	X-linked optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5073679015	X-linked optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13988341000146115	X-gebonden opticusatrofie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13988351000146117	X-gebonden opticusatrofie (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13988361000146119	X-gebonden atrofie van nervus opticus	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)