722990003: congenitale atrofie van nervus opticus (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\Optic atrophy\Congenital atrophy of optic nerve (disorder)

\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)

\Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Congenital atrophy of optic nerve (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital atrophy of optic nerve (disorder)
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Congenital atrophy of optic nerve (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)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital atrophy of optic nerve (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)
\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)
\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)

Status: current, 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
Congenital atrophy of optic nerve (disorder)	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital atrophy of optic nerve (disorder)	Is a	Optic atrophy	true	Inferred relationship	Some
Congenital atrophy of optic nerve (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Congenital atrophy of optic nerve (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital atrophy of optic nerve (disorder)	Finding site	Optic nerve structure	true	Inferred relationship	Some	1
Congenital atrophy of optic nerve (disorder)	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Leber plus disease (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Early-onset X-linked optic atrophy (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Spastic paraplegia, optic atrophy, neuropathy syndrome (disorder)	Is a	False	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
SPOAN and SPOAN-related disorder	Is a	False	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Late congenital syphilitic optic atrophy	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some
Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome (disorder)	Is a	True	Congenital atrophy of optic nerve (disorder)	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3334096018	Congenital atrophy of optic nerve (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3334097010	Congenital atrophy of optic nerve	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3334098017	Congenital optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4638731000146117	congenitale atrofie van nervus opticus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4638741000146113	congenitale atrofie van nervus opticus (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4638751000146111	congenitale atrofie van tweede hersenzenuw	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4638771000146115	congenitale atrofie van hersenzenuw II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4638781000146118	aangeboren atrofie van nervus opticus	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)