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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Spinocerebellar ataxia\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary peripheral neuropathy\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\Disorder of body system\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Spinocerebellar ataxia\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of body system\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Hepatic failure\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)

Status: current. Date: 31-Jan 2022

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
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	Inactive	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

Expanded Value Set

This concept is not in any reference sets

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