784347002: Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos du système nerveux central\Second cranial nerve finding\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos des yeux ou de la vue\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \constatation à propos des yeux ou de la vue\Second cranial nerve finding\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Neurological finding\Aphasia, agnosia, dyslexia AND/OR apraxia\dyslexie et/ou trouble de la parole\Dysarthria\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Neurological finding\Cranial nerve finding\Second cranial nerve finding\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Hereditary disorder of the visual system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\affection du système visuel\Disorder of visual pathways (disorder)\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\trouble métabolique\Mitochondrial cytopathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome

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
3763716019	Autosomal recessive spastic ataxia type 4	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763717011	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763718018	Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3763719014	SPAX 4 - autosomal recessive spastic ataxia type 4	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3763720015	A rare genetic autosomal recessive spastic ataxia disease with characteristics of the onset in early childhood of spastic paraparesis, cerebellar ataxia, dysarthria and optic atrophy. Caused by homozygous mutation in the MTPAP gene on chromosome 10p11.	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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