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71702000: Maple syrup urine disease, multiple dehydrogenase form (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form
\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\Maple syrup urine disease, multiple dehydrogenase form
\Metabolic disease\Enzymopathy\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form

\Congenital disease (disorder)\Inborn error of metabolism\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Maple syrup urine disease, multiple dehydrogenase form	Is a	Maple syrup urine disease	true	Inferred relationship	Some
Maple syrup urine disease, multiple dehydrogenase form	Occurrence	Congenital	true	Inferred relationship	Some	1
Maple syrup urine disease, multiple dehydrogenase form	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
119115019	Maple syrup urine disease, multiple dehydrogenase form	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
119116018	Maple syrup urine disease, E3 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
811898014	Maple syrup urine disease, multiple dehydrogenase form (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14014341000172114	maladie des urines sirop d'érable avec déficit multiple en déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14014351000172111	leucinose avec déficit en E3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4470251000172114	'maple syrup urine disease' met multipele dehydrogenasedeficiënties	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4470261000172111	esdoornstroopziekte met meerdere dehydrogenasedeficiënties	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4470271000172119	MSUD met meerdere dehydrogenasedeficiënties	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)