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\Organic acid metabolism disorder\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, Primitive. Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start