1222649004: Auditory neuropathy, optic atrophy syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Peripheral nerve finding\atteinte d'un nerf périphérique\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\atteinte d'un nerf périphérique\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (disorder)
• \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\Auditory neuropathy, optic atrophy syndrome (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Optic atrophy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Optic atrophy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\atteinte d'un nerf périphérique\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\atteinte d'un nerf périphérique\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (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\Auditory neuropathy, optic atrophy syndrome (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\Auditory neuropathy, optic atrophy syndrome (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\Auditory neuropathy, optic atrophy syndrome (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\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Auditory neuropathy, optic atrophy syndrome (disorder)
• \Disease\Disorder of soft tissue\atteinte d'un nerf périphérique\Disorder of acoustic nerve\Auditory neuropathy, optic atrophy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048301019	Auditory neuropathy, optic atrophy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	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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