782822006: Infantile cerebellar and retinal degeneration (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Finding of head region\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Globe finding (finding)\Retina finding (finding)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Globe finding (finding)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Degenerative disorder\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Anomaly of eye\Degenerative disorder of eye (disorder)\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of eye proper (disorder)\Disorder of posterior segment of eye\Disorder of vitreous body and retina (disorder)\Retinal disorder\Degeneration of retina (disorder)\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Infantile cerebellar and retinal degeneration (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756074010	Infantile cerebellar and retinal degeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756075011	Infantile cerebellar and retinal degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756076012	A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756074010	Infantile cerebellar and retinal degeneration (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756075011	Infantile cerebellar and retinal degeneration	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756076012	A rare neurodegenerative disorder with characteristics of early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the aconitase-2 gene (ACO2) on chromosome 22q13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
545781000274112	Mitochondrialer Aconitase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
603811000274111	Infantile zerebellär-retinale Degeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6237691000241119	dégénérescence cérébellorétinienne chez le nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6237701000241119	dégénérescence du cervelet et de la rétine chez le bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6237691000241119	dégénérescence cérébellorétinienne chez le nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6237701000241119	dégénérescence du cervelet et de la rétine chez le bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
545781000274112	Mitochondrialer Aconitase-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
603811000274111	Infantile zerebellär-retinale Degeneration	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423221001000110	Zerebellär-retinale Degeneration, infantile	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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