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717336005: Autosomal dominant optic atrophy classic form (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5401567011 A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401568018 A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and colour vision defects. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309090013 Autosomal dominant optic atrophy classic form (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309091012 Autosomal dominant optic atrophy classic form en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3309092017 Autosomal dominant optic atrophy Kjer type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3309093010 Kjer optic atrophy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3309094016 Optic atrophy type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
944711000172116 atrophie optique autosomique dominante de Kjer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1011761000172116 atrophie optique autosomique dominante classique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601181000274110 Autosomal-dominante Optikusatrophie Typ Kjer de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601191000274112 Autosomal-dominante Optikusatrophie, klassische Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. Is a Dominant hereditary optic atrophy true Inferred relationship Some
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. Associated morphology Primary atrophy (morphologic abnormality) true Inferred relationship Some 1
A rare neuro-ophthalmological disease which is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss with an onset during the first decade of life, associated with optic disc pallor, visual acuity loss, visual field deficits and color vision defects. Finding site Optic nerve structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

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