1222649004: Auditory neuropathy, optic atrophy syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Peripheral nerve finding\Peripheral neuropathy\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral neuropathy\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
• \Central nervous system finding\Disorder of the central nervous system\...
• \Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
• \Degenerative disease of the central nervous system\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Finding of head and neck region\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
• \Ear and auditory finding\Hearing finding\Decreased hearing\Auditory neuropathy, optic atrophy syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Functional finding\Decline in functional status\Decreased hearing\Auditory neuropathy, optic atrophy syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
• \Functional finding\Hearing finding\Decreased hearing\Auditory neuropathy, optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Auditory neuropathy, optic atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Peripheral neuropathy\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Peripheral neuropathy\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome
• \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\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\Auditory neuropathy, optic atrophy syndrome
• \Disease\Disorder of soft tissue\Peripheral neuropathy\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5048300018	Auditory neuropathy, optic atrophy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5048301019	Auditory neuropathy, optic atrophy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5048302014	A rare mitochondrial disease with characteristics of bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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