717336005: atrophie optique autosomique dominante classique (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\...
• \maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\atrophie optique autosomique dominante classique

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
1011761000172116	atrophie optique autosomique dominante classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
751001000241115	atrophie optique autosomique dominante classique (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
944711000172116	atrophie optique autosomique dominante de Kjer	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3309095015	One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and color vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3309096019	One of the most common forms of hereditary optic neuropathy characterised by progressive bilateral visual loss during the first decade of life associated with optic disc pallor, visual field and colour vision defects. Later onset is possible. Visual impairment is usually moderate but may range from mild to severe. In about 20% of cases, extra-ocular signs are present, such as sensorineural hearing loss or other more severe neurological signs. Transmission is autosomal dominant with a penetrance of 50%.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

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