31368008: Thiamin-responsive 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\Thiamin-responsive maple syrup urine disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease\Thiamin-responsive maple syrup urine disease

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Maple syrup urine disease\Thiamin-responsive maple syrup urine disease

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease\Thiamin-responsive 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\Thiamin-responsive maple syrup urine disease
\Metabolic disease\Enzymopathy\Maple syrup urine disease\Thiamin-responsive 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
Thiamin-responsive maple syrup urine disease	Is a	Maple syrup urine disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamin-responsive maple syrup urine disease	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Thiamin-responsive maple syrup urine disease	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
52439017	Thiamin-responsive maple syrup urine disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762481018	Thiamin-responsive maple syrup urine disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
52439017	Thiamin-responsive maple syrup urine disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
52439017	Thiamin-responsive maple syrup urine disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
762481018	Thiamin-responsive maple syrup urine disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
762481018	Thiamin-responsive maple syrup urine disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3455031001000116	Ahornsirup-Krankheit, Thiamin-responsive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891631000172118	cétoacidurie à chaînes ramifiées sensible à la thiamine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
987861000172111	maladie du sirop d'érable sensible à la thiamine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
891631000172118	cétoacidurie à chaînes ramifiées sensible à la thiamine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
987861000172111	maladie du sirop d'érable sensible à la thiamine	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3455031001000116	Ahornsirup-Krankheit, Thiamin-responsive	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module