1222655009: Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation générale à propos des tissus mous\Poor muscle tone (finding)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \maladie dégénérative du système nerveux central\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Poor muscle tone (finding)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Decreased muscle tone (finding)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Musculoskeletal finding\Poor muscle tone (finding)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (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, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\trouble métabolique\Mitochondrial cytopathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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
5048327019	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048328012	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5048329016	A rare mitochondrial disease with characteristics of a variable clinical phenotype with the core features of optic atrophy, ataxia and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age.	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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