723557004: Thiamine-responsive encephalopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Finding of brain\Encephalopathy\Thiamine-responsive encephalopathy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Thiamine-responsive encephalopathy
• \Finding of head and neck region\Head finding\...
• \Finding of brain\Encephalopathy\Thiamine-responsive encephalopathy
• \Disorder of head\Encephalopathy\Thiamine-responsive encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Thiamine-responsive encephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Thiamine-responsive encephalopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Thiamine-responsive encephalopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Thiamine-responsive encephalopathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Thiamine-responsive encephalopathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Thiamine-responsive encephalopathy
• \Disease\Disorder of head\Encephalopathy\Thiamine-responsive encephalopathy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Thiamine-responsive encephalopathy
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Thiamine-responsive encephalopathy

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3425104012	Thiamine-responsive encephalopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3425105013	Thiamine-responsive encephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3425106014	A Wernicke-like encephalopathy with characteristics of seizures responsive to high doses of thiamine. Two cases have been described so far. Clinical features include epilepsy, nystagmus, ophthalmoplegia and ataxia. The disease results from mutations in the SLC19A3 gene, encoding a thiamine transporter. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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