27718001: maple syrup urine disease (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Maple syrup urine disease

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Maple syrup urine disease

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\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
\Metabolic disease\Enzymopathy\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
Maple syrup urine disease	Is a	Enzymopathy	true	Inferred relationship	Some
Maple syrup urine disease	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Maple syrup urine disease	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Some
Maple syrup urine disease	Occurrence	Congenital	true	Inferred relationship	Some	1
Maple syrup urine disease	Finding site	Body system structure	false	Inferred relationship	Some
Maple syrup urine disease	Is a	Inborn error of metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Intermittent maple syrup urine disease	Is a	False	Maple syrup urine disease	Inferred relationship	Some
Mild maple syrup urine disease	Is a	True	Maple syrup urine disease	Inferred relationship	Some
Dihydrolipoamide dehydrogenase deficiency	Is a	True	Maple syrup urine disease	Inferred relationship	Some
Thiamin-responsive maple syrup urine disease	Is a	True	Maple syrup urine disease	Inferred relationship	Some
Classical maple syrup urine disease	Is a	True	Maple syrup urine disease	Inferred relationship	Some
Maple syrup urine disease, multiple dehydrogenase form	Is a	True	Maple syrup urine disease	Inferred relationship	Some
Intermediate maple syrup urine disease (disorder)	Is a	True	Maple syrup urine disease	Inferred relationship	Some
Intermittent maple syrup urine disease (disorder)	Is a	True	Maple syrup urine disease	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
46396017	Maple syrup urine disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46397014	Maple syrup urine disease, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
46398016	Branched-chain alpha-keto acid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
46399012	BCKD deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
46400017	MSUD	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
46401018	Ketoacid decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
196615010	Ketoacidemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
196616011	Branched chain ketoaciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
483637010	Ketoacidaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
758317019	Maple syrup urine disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1225519017	Branched chain ketoacid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1225520011	BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1225521010	MSUD - Maple syrup urine disease	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
1225522015	Oxo-acid decarboxylase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5244056018	BCKD - branched-chain 2-ketoacid dehydrogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5244057010	MSUD - maple syrup urine disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
85981000146116	maple-syrup urine disease	nl	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
928821000146118	maple-syrup urine disease (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12576951000146114	maple syrup urine disease (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12576961000146112	maple syrup urine disease	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13672741000146114	MSUD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)