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

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

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
4675716010	Autosomal recessive spinocerebellar ataxia type 21	en	Synonym	Active	Case insensitive	SNOMED CT core
4675717018	Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

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Problem/Diagnosis reference set

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