720634003: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Eye / vision finding\Visual system disorder\...
• \Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of visual pathways\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Cranial nerve disorder (disorder)\Disorder of optic nerve\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited optic neuropathy (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \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)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Early onset cerebellar ataxia (disorder)\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Disorder of head (disorder)\Disorder of ear\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3321601013	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321608019	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321609010	CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402440016	A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402441017	A rare autosomal dominant neurological disorder characterised by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321601013	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321601013	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321608019	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3321608019	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3321609010	CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3321610017	A rare autosomal dominant neurological disorder with characteristics of early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity and abnormal eye movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402440016	A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402441017	A rare autosomal dominant neurological disorder characterised by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
528361000274110	CAPOS-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
564481000274111	Syndrom mit zerebellärer Ataxie, Areflexie, Pes cavus, Optikusatrophie und sensorineuraler Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
897441000172119	syndrome d'ataxie cérébelleuse-aréflexie-pieds creux-atrophie optique-surdité neurosensorielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
933561000172113	syndrome CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
897441000172119	syndrome d'ataxie cérébelleuse-aréflexie-pieds creux-atrophie optique-surdité neurosensorielle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
933561000172113	syndrome CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
528361000274110	CAPOS-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
564481000274111	Syndrom mit zerebellärer Ataxie, Areflexie, Pes cavus, Optikusatrophie und sensorineuraler Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3415321001000110	Zerebelläre Ataxie - Areflexie - Pes cavus - Optikusatrophie - sensorineurale Schwerhörigkeit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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