1187643003: Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Viscus structure finding (finding)\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Acute digestive system disorder\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of coordination\Ataxia\...
• \Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \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\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary ataxia (disorder)\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Acute nervous system disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the peripheral nervous system (disorder)\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease 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\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Acute digestive system disorder\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Disease of digestive system (disorder)\Disorder of digestive organ\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of liver and/or biliary tract\Disease of liver\Hepatic failure\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Cerebellar disorder\Cerebellar ataxia\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\Spinocerebellar ataxia (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Acute disease\Acute nervous system disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Acute disease\Acute digestive system disorder\Acute hepatic failure (disorder)\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4675715014	Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675716010	Autosomal recessive spinocerebellar ataxia type 21	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675717018	Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399678011	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399679015	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4675715014	Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675716010	Autosomal recessive spinocerebellar ataxia type 21	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675717018	Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675718011	A rare autosomal recessive axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399678011	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399679015	A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterised by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3391261001000119	Akutes infantiles Leberversagen-zerebelläre Ataxie-periphere sensomotorische Neuropathie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5938001000241118	ataxie spinocérébelleuse autosomique récessive de type 21	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5938011000241116	syndrome d'insuffisance hépatique infantile aigüe, ataxie cérébelleuse et neuropathie sensorimotrice périphérique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5938001000241118	ataxie spinocérébelleuse autosomique récessive de type 21	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5938011000241116	syndrome d'insuffisance hépatique infantile aigüe, ataxie cérébelleuse et neuropathie sensorimotrice périphérique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391261001000119	Akutes infantiles Leberversagen-zerebelläre Ataxie-periphere sensomotorische Neuropathie-Syndrom	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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