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1156823006: Autosomal recessive bilateral optic atrophy (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4578698016 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4578702017 Autosomal recessive bilateral optic atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4578703010 Autosomal recessive bilateral optic atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5817531000241117 atrophie bilatérale autosomique récessive des nerfs optiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817541000241110 atrophie optique bilatérale autosomique récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817551000241113 atrophie autosomique récessive des deux nerfs optiques fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
591701000274114 Autosomal-rezessive bilaterale Optikusatrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
591711000274111 Bilaterale autosomal-rezessive Optikusatrophie 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 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. Associated morphology Primary atrophy (morphologic abnormality) true Inferred relationship Some 1
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 Autosomal recessive hereditary disorder true Inferred relationship Some
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 Hereditary bilateral optic atrophy (disorder) true Inferred relationship Some
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. Finding site Structure of left optic nerve (body structure) true Inferred relationship Some 1
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. Associated morphology Primary atrophy (morphologic abnormality) true Inferred relationship Some 2
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. Finding site Structure of right optic nerve (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

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