765091006: ataxia espinocerebelosa con neuropatía axónica tipo 1 (trastorno)

• concepto de SNOMED CT\Clinical finding (finding)\...
• \Finding of back (finding)\hallazgo relacionado con la columna vertebral\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Finding of back (finding)\hallazgo relacionado con la columna vertebral\hallazgo relacionado con la médula espinal\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\hallazgo en el cerebro\Disorder of brain (disorder)\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\hallazgo relacionado con la médula espinal\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\trastorno cerebeloso\ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\hallazgo en el cerebro\Disorder of brain (disorder)\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\enfermedad degenerativa del sistema nervioso central\enfermedad degenerativa hereditaria del sistema nervioso central\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\enfermedad degenerativa del sistema nervioso central\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \hallazgo en el sistema nervioso central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\enfermedad genética\Hereditary disease\trastorno hereditario por sistema orgánico\trastorno hereditario del sistema nervioso\Hereditary ataxia (disorder)\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\enfermedad genética\Hereditary disease\trastorno hereditario por sistema orgánico\trastorno hereditario del sistema nervioso\enfermedad degenerativa hereditaria del sistema nervioso central\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\enfermedad genética\Hereditary disease\Autosomal hereditary disorder\trastorno hereditario autosómico recesivo\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno degenerativo\enfermedad degenerativa del sistema nervioso central\enfermedad degenerativa hereditaria del sistema nervioso central\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno degenerativo\enfermedad degenerativa del sistema nervioso central\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\trastorno hereditario por sistema orgánico\trastorno hereditario del sistema nervioso\Hereditary ataxia (disorder)\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\trastorno hereditario por sistema orgánico\trastorno hereditario del sistema nervioso\enfermedad degenerativa hereditaria del sistema nervioso central\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\trastorno hereditario del sistema nervioso\Hereditary ataxia (disorder)\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\trastorno hereditario del sistema nervioso\enfermedad degenerativa hereditaria del sistema nervioso central\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\enfermedad degenerativa del sistema nervioso central\enfermedad degenerativa hereditaria del sistema nervioso central\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\enfermedad degenerativa del sistema nervioso central\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\trastorno de sistema corporal\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\trastorno cerebeloso\ataxia cerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\degeneración cerebelosa\Hereditary cerebellar degeneration\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)
• \enfermedad\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\enfermedad espinocerebelosa\ataxia espinocerebelosa\Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)

Status: current, estado de definición de concepto necesario pero no suficiente (metadato del núcleo). Date: 31-Jul 2018. Module: módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3656373011	Spinocerebellar ataxia with axonal neuropathy type 1 (disorder)	en	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
3656374017	Spinocerebellar ataxia with axonal neuropathy type 1	en	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
731701000209112	ataxia espinocerebelosa con neuropatía axónica tipo 1 (trastorno)	es	descripción completa	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
731711000209110	ataxia espinocerebelosa con neuropatía axónica tipo 1	es	sinónimo (metadato del núcleo)	Active	uso de mayúsculas y minúsculas sin relevancia para la totalidad del término (metadato del núcleo)	Latin American Spanish extension module
3656375016	A rare genetic neurological disorder characterised by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolaemia and borderline hypoalbuminaemia.	en	definición	Inactive	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
3656376015	A rare genetic neurological disorder characterized by late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	en	definición	Inactive	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
5404468016	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.	en	definición	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
5404469012	Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterised by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, steppage gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolaemia and borderline hypoalbuminaemia.	en	definición	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	módulo identificador del núcleo de la terminología de SNOMED CT (metadato del núcleo)
785431000209115	Un trastorno genético neurológico raro, caracterizado por aparición en la segunda infancia de ataxia cerebelosa lentamente progresiva. Las manifestaciones iniciales incluyen debilidad y atrofia de músculos distales de los miembros, arreflexia y pérdida de las sensaciones dolorosas, vibratorias y táctiles en las extremidades superiores e inferiores. A medida que progresa la enfermedad se producen nistagmo, disartria cerebelosa, neuropatía periférica, marcha equina y pie cavo. En todos los individuos afectados se observa atrofia del cerebelo (en especial en el vermis). Otras manifestaciones informadas incluyen convulsiones, atrofia cerebral leve, hipercolesterolemia leve e hipoalbuminemia limítrofe.	es	definición	Active	letras mayúsculas y minúsculas relevantes en todo el término (metadato del núcleo)	Latin American Spanish extension module

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