791000124107: 2-methyl-3-hydroxybutyric aciduria (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Central nervous system finding\Disorder of the central nervous system\2-methyl-3-hydroxybutyric aciduria
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\2-methyl-3-hydroxybutyric aciduria
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease\2-methyl-3-hydroxybutyric aciduria
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\2-methyl-3-hydroxybutyric aciduria
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\2-methyl-3-hydroxybutyric aciduria
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\2-methyl-3-hydroxybutyric aciduria
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\2-methyl-3-hydroxybutyric aciduria
• \Disease\Metabolic disease\Chronic metabolic disorder\2-methyl-3-hydroxybutyric aciduria
• \Disease\Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of isoleucine metabolism\2-methyl-3-hydroxybutyric aciduria
• \Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of dehydrogenase\2-methyl-3-hydroxybutyric aciduria
• \Disease\Chronic disease\Chronic metabolic disorder\2-methyl-3-hydroxybutyric aciduria
• \Disease\Chronic disease\Chronic nervous system disorder\2-methyl-3-hydroxybutyric aciduria

Status: current, Primitive. Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3516733016	2-methyl-3-hydroxybutyric aciduria (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3516734010	2-methyl-3-hydroxybutyric aciduria	en	Synonym	Active	Case insensitive	SNOMED CT core
3516735011	HSD10 disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3516736012	A rare life-threatening neurometabolic disease with characteristics of a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.	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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