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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4695167010	Autosomal recessive isolated optic atrophy	en	Synonym	Active	Case insensitive	SNOMED CT core
4695236015	Autosomal recessive non-syndromic optic atrophy	en	Synonym	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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