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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\trouble neurologique chronique\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\trouble métabolique\Chronic metabolic disorder\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\Disorder of isoleucine metabolism (disorder)\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\trouble métabolique\Enzymopathy\Specific enzyme deficiency\Deficiency of dehydrogenase\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\maladie chronique\Chronic metabolic disorder\2-methyl-3-hydroxybutyric aciduria (disorder)
• \Disease\maladie chronique\trouble neurologique chronique\2-methyl-3-hydroxybutyric aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3516734010	2-methyl-3-hydroxybutyric aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3516735011	HSD10 disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	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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