784347002: syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Central nervous system finding\Second cranial nerve finding\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Eye / vision finding\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Eye / vision finding\Second cranial nerve finding\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Speech finding\Disturbance in speech\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
• \Neurological finding\Dysarthria\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Genetic disease\Hereditary disease\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\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\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\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\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\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Disorder 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\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Optic atrophy\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar ataxia\Autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome
• \Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\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
9589921000146114	syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9589931000146111	syndroom van autosomaal recessieve spastische ataxie, opticusatrofie en dysartrie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10764701000146116	syndroom van autosomaal recessieve spastische ataxie, atrofie van oogzenuw en dysartrie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10764711000146119	syndroom van autosomaal recessieve spastische ataxie, atrofie van nervus opticus en dysartrie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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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