405288003: Intermittent maple syrup urine disease (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Intermittent maple syrup urine disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Intermittent maple syrup urine disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Intermittent maple syrup urine disease
• \Metabolic disease\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\Maple syrup urine disease\Intermittent maple syrup urine disease
• \Metabolic disease\Enzymopathy\Maple syrup urine disease\Intermittent maple syrup urine disease
• \Congenital disease\Inborn error of metabolism\Maple syrup urine disease\Intermittent maple syrup urine disease

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2004. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
2149118017	Intermittent maple syrup urine disease (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
2157108014	Intermittent maple syrup urine disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2163055019	Intermittent branched chain ketoaciduria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2163056018	Partial branched chain ketoacid dehydrogenase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
2163057010	Intermittent branched-chain ketoaciduria	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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