54064006: Classical maple syrup urine disease (disorder)

\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)\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\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Classical maple syrup urine disease	Is a	Maple syrup urine disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Classical maple syrup urine disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Classical maple syrup urine disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Classical maple syrup urine disease	Severity	Severe	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
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
89857018	Classical maple syrup urine disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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	Only initial character 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
3414691001000115	Ahornsirup-Krankheit, klassische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
950121000172118	maladie du sirop d'érable classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962301000172119	cétoacidurie à chaînes ramifiées classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
950121000172118	maladie du sirop d'érable classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
962301000172119	cétoacidurie à chaînes ramifiées classique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3414691001000115	Ahornsirup-Krankheit, klassische	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module