54064006: Classical maple syrup urine disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Classical maple syrup urine disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Classical maple syrup urine disease
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Maple syrup urine disease\Classical maple syrup urine disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Classical 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\Classical maple syrup urine disease
• \Metabolic disease\Enzymopathy\Maple syrup urine disease\Classical maple syrup urine disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
89857018	Classical maple syrup urine disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
792254013	Classical maple syrup urine disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1231286015	Severe branched chain ketoacid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start