717336005: Autosomal dominant optic atrophy classic form (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Central nervous system finding\Disorder of the central nervous system (disorder)\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Dominant hereditary optic atrophy\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
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
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	Only initial character case insensitive (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	Only initial character 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	Only initial character case insensitive (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
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
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
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
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
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
3442321001000114	Optikusatrophie, autosomal-dominante, klassische Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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