1197151003: Autosomal recessive isolated optic atrophy (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\Autosomal recessive isolated optic atrophy (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (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\Autosomal recessive isolated optic atrophy (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\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (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\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (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\Disorder of right optic nerve (disorder)\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (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\Disorder of left optic nerve (disorder)\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (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)\Autosomal recessive isolated optic atrophy (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\Optic atrophy of left eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (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\Optic atrophy of right eye\Bilateral optic atrophy of eyes\Autosomal recessive isolated optic atrophy (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4695166018	Autosomal recessive isolated optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695167010	Autosomal recessive isolated optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695236015	Autosomal recessive non-syndromic optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695168017	A rare hereditary optic atrophy characterised by an 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
4695169013	A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, 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
4695166018	Autosomal recessive isolated optic atrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695167010	Autosomal recessive isolated optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695236015	Autosomal recessive non-syndromic optic atrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4695168017	A rare hereditary optic atrophy characterised by an 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
4695169013	A rare hereditary optic atrophy characterized by an early onset of bilateral optic nerve degeneration without other systemic features. Clinical manifestations include pallor of the optic disks, 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
518841000274114	Nicht-syndromale autosomal-rezessive Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
558331000274115	Isolierte autosomal-rezessive Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
518841000274114	Nicht-syndromale autosomal-rezessive Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
558331000274115	Isolierte autosomal-rezessive Optikusatrophie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392111001000116	Optikusatrophie, isolierte, autosomal-rezessive	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)

Description inactivation indicator reference set

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