721200000: vroeg optredende 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\Early-onset X-linked optic atrophy (disorder)
\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)

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

\Inherited optic neuropathy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)

\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)

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

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

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

\Inherited optic neuropathy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)

\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)

\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\Early-onset X-linked optic atrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\X-linked optic atrophy\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)
\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\Congenital atrophy of optic nerve (disorder)\Early-onset X-linked optic atrophy (disorder)
\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\Early-onset X-linked optic atrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Early-onset X-linked optic atrophy (disorder)	Is a	Hereditary optic atrophy	false	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Associated morphology	Primary atrophy	true	Inferred relationship	Some	2
Early-onset X-linked optic atrophy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Early-onset X-linked optic atrophy (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	2
Early-onset X-linked optic atrophy (disorder)	Is a	Congenital atrophy of optic nerve (disorder)	true	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Is a	X-linked recessive hereditary disease	false	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Is a	X-linked optic atrophy	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3324593011	Early-onset X-linked optic atrophy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324594017	Early-onset X-linked optic atrophy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324595016	Non-Leber type optic atrophy with early-onset	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3324611017	Optic atrophy type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6124051000146112	vroeg optredende X-gebonden opticusatrofie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6124061000146110	vroeg optredende X-gebonden atrofie van nervus opticus	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6124071000146116	vroeg optredende X-gebonden opticusatrofie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6124081000146119	OPA2	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6124091000146117	opticusatrofie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6124101000146112	vroeg optredende opticusatrofie van niet-Leber-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3324612012	A rare form of hereditary optic atrophy seen in only 4 families to date. With onset in early childhood the disease has characteristics of progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core