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 (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\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 (disorder)
\Metabolic disease\Enzymopathy\Maple syrup urine disease\Maple syrup urine disease, multiple dehydrogenase form (disorder)

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 (disorder)	Is a	Maple syrup urine disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Maple syrup urine disease, multiple dehydrogenase form (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Maple syrup urine disease, multiple dehydrogenase form (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
119115019	Maple syrup urine disease, multiple dehydrogenase form	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	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
6360071000241110	maladie des urines sirop d'érable avec déficit multiple en déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6360081000241112	leucinose avec déficit en E3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6360071000241110	maladie des urines sirop d'érable avec déficit multiple en déshydrogénase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6360081000241112	leucinose avec déficit en E3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module