717336005: Autosomal dominant optic atrophy classic form (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Dominant hereditary optic atrophy\Autosomal dominant optic atrophy classic form

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3309091012	Autosomal dominant optic atrophy classic form	en	Synonym	Active	Case insensitive	SNOMED CT core
3309092017	Autosomal dominant optic atrophy Kjer type	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3309093010	Kjer optic atrophy	en	Synonym	Active	Case sensitive	SNOMED CT core
3309094016	Optic atrophy type 1	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start