771514002: syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\Hereditary ataxia (disorder)\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \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\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \constatation à propos des yeux ou de la vue\affection du système visuel\...
• \Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disorder of visual pathways (disorder)\Disorder of optic nerve\...
• \Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \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\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \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\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \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\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \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\Primary optic atrophy\Hereditary optic atrophy\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité
• \Disease\maladie chronique\trouble neurologique chronique\syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1005901000172119	syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3706577019	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706578012	Early-onset progressive neurodegeneration, blindness, ataxia, spasticity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
770841000241117	syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3706579016	A genetic neurodegenerative disease with normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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