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

• SNOMED CT Concept\Clinical finding\...
• \Finding related to coordination / incoordination\Ataxia\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \General finding of soft tissue\Poor muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Ear and auditory finding\Hearing finding\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Functional finding\Decline in functional status\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Functional finding\Hearing finding\Decreased hearing\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Muscle finding\Muscle tone - finding\Poor muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Muscle finding\Muscle tone - finding\Decreased muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Musculoskeletal finding\Poor muscle tone\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\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
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\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
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary ataxia\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay 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\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \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, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
5048328012	Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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