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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du dos\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du dos\Finding of spinal region\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du dos\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\constatation à propos du foie\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Finding related to coordination / incoordination (finding)\Ataxia\...
• \Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos de la moelle spinale\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \constatation à propos l'encéphale\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\...
• \Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection dégénérative\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary ataxia (disorder)\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\Hereditary peripheral neuropathy\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\maladie dégénérative du système nerveux central\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\insuffisance hépatique (trouble)\Acute hepatic failure\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Spinocerebellar disease\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\affection cérébelleuse\Cerebellar ataxia\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\ataxie spinocérébelleuse dominante\Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome (disorder)
• \Disease\affection du dos\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Encephalomyelopathy (disorder)\Spinocerebellar disease\ataxie spinocérébelleuse dominante\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
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

Expanded Value Set

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