717266001: Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Finding of movement\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Finding of movement\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Sensory ataxia (finding)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \General finding of soft tissue\Peripheral nerve finding\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Eye / vision finding\Visual system disorder\...
• \Disorder of eye region\Disorder of ocular adnexa\...
• \Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Hereditary disorder of the visual system (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disorder of eye movements\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Speech finding\Disturbance in speech\Dysarthria (finding)\Acquired dysarthria\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Muscle finding (finding)\Disorder of muscle\...
• \Disorder of skeletal muscle\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Secondary myopathy\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\...
• \Hereditary disorder of musculoskeletal system\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disorder of skeletal muscle\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Paralysis (finding)\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Neurological finding\Dysarthria (finding)\Acquired dysarthria\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the visual system (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye movements\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Metabolic neuropathy\Peripheral neuropathy due to metabolic disorder (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neuropathy\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Neurologic disorder of eye movements (disorder)\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of muscle\Secondary myopathy\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region\Disorder of ocular adnexa\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of head (disorder)\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Movement disorder\Paralytic syndrome\Ophthalmoplegia\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Chronic disease\Chronic disease of ocular adnexa\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Chronic disease\Chronic nervous system disorder (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of soft tissue\Peripheral nerve disease\Peripheral neuropathy due to metabolic disorder (disorder)\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of soft tissue\Disorder of soft tissue of head (disorder)\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Disorder of extraocular muscle\External ophthalmoplegia (disorder)\Progressive external ophthalmoplegia\Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308894011	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308895012	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308896013	SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401545010	A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401546011	A rare mitochondrial disease characterised by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308894011	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308894011	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308895012	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3308895012	Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308896013	SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308897016	This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3777400017	This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibers on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401545010	A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401546011	A rare mitochondrial disease characterised by adult onset of the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. Additional signs and symptoms are highly variable and include myopathy, seizures, and hearing loss, among others. Brain imaging may show cerebellar white matter abnormalities and/or bilateral thalamic lesions.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
601161000274117	Syndrom mit sensorisch-ataktischer Neuropathie, Dysarthrie und Ophthalmoplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389931001000119	Neuropathie, sensorisch-ataktische - Dysarthrie - Ophthalmoplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886951000172112	syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
979381000172111	SANDO - sensory ataxic neuropathy, dysarthria, ophthalmoparesis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
886951000172112	syndrome d'ataxie neuropathique sensorielle-dysarthrie-ophtalmoplégie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
979381000172111	SANDO - sensory ataxic neuropathy, dysarthria, ophthalmoparesis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
601161000274117	Syndrom mit sensorisch-ataktischer Neuropathie, Dysarthrie und Ophthalmoplegie	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3389931001000119	Neuropathie, sensorisch-ataktische - Dysarthrie - Ophthalmoplegie	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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