1197151003: Autosomal recessive isolated optic atrophy (disorder)

• 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\Autosomal recessive isolated optic atrophy (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive isolated optic atrophy (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive isolated optic atrophy (disorder)
• \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\Autosomal recessive isolated optic atrophy (disorder)
• \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\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \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\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \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\Autosomal recessive isolated optic atrophy (disorder)
• \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\Optic atrophy of left eye\Optic atrophy of bilateral eyes (disorder)\Autosomal recessive isolated optic atrophy (disorder)
• \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\Optic atrophy of right eye\Optic atrophy of bilateral eyes (disorder)\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

Expanded Value Set

This concept is not in any reference sets

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