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15699081000119101: Hereditary bilateral optic atrophy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3434930013 Hereditary bilateral optic atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3434931012 Hereditary bilateral optic atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6278561000241111 atrophie héréditaire bilatérale des deuxièmes nerfs crâniens fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6278571000241115 atrophie héréditaire bilatérale des nerfs optiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6278581000241118 atrophie héréditaire des deux nerfs crâniens II fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
554491000274116 Bilaterale hereditäre Optikusatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
583571000274111 Bilaterale hereditäre Sehnervenatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


1 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary bilateral optic atrophy (disorder) Is a Hereditary right optic atrophy (disorder) true Inferred relationship Some
Hereditary bilateral optic atrophy (disorder) Is a Hereditary left optic atrophy (disorder) true Inferred relationship Some
Hereditary bilateral optic atrophy (disorder) Associated morphology Primary atrophy (morphologic abnormality) true Inferred relationship Some 3
Hereditary bilateral optic atrophy (disorder) Associated morphology Primary atrophy (morphologic abnormality) true Inferred relationship Some 4
Hereditary bilateral optic atrophy (disorder) Finding site Structure of right optic nerve (body structure) true Inferred relationship Some 3
Hereditary bilateral optic atrophy (disorder) Finding site Structure of left optic nerve (body structure) true Inferred relationship Some 4
Hereditary bilateral optic atrophy (disorder) Is a Optic atrophy of bilateral eyes (disorder) false Inferred relationship Some
Hereditary bilateral optic atrophy (disorder) Is a Primary optic atrophy of bilateral eyes (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare hereditary optic atrophy with characteristics of early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic discs, severe but slowly progressing visual impairment, and in some patients also paracentral scotoma, photophobia and dyschromatopsia. Is a True Hereditary bilateral optic atrophy (disorder) Inferred relationship Some

This concept is not in any reference sets

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