1260129000: Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative 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\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Axonal neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disorder of visual pathways\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Disorder of cranial nerve\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Neuropathy\Axonal neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Hereditary peripheral neuropathy\Hereditary motor and sensory neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative 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\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Axonal neuropathy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative 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\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Chronic disease\Chronic nervous system disorder\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5159283017	Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5159284011	ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
5159285012	Axonal neuropathy, optic atrophy, cognitive deficit syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159286013	Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5159287016	A rare neurologic disease with characteristics of axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure.	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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