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:

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

46398016 Branched-chain alpha-keto acid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (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

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

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)

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