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27718001: Maple syrup urine disease (disorder)

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
46396017 Maple syrup urine disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 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) Active Entire term case sensitive (core metadata concept) SNOMED CT core
46400017 MSUD en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
46401018 Ketoacid decarboxylase deficiency en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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 Only initial character 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) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1225520011 BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1225521010 MSUD - Maple syrup urine disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1225521010 MSUD - Maple syrup urine disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1225522015 Oxo-acid decarboxylase deficiency en Synonym (core metadata concept) Active Only initial character 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
3454211001000119 Ahornsirup-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
81691000172116 maladie des urines à odeur de sirop d'érable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
198631000172115 cétoacidurie à chaines ramifiées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
81691000172116 maladie des urines à odeur de sirop d'érable fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
198631000172115 cétoacidurie à chaines ramifiées fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3454211001000119 Ahornsirup-Krankheit de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Maple syrup urine disease Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Maple syrup urine disease Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Intermittent maple syrup urine disease Is a False Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Mild maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Dihydrolipoamide dehydrogenase deficiency Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Thiamin-responsive maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Classical maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Maple syrup urine disease, multiple dehydrogenase form (disorder) Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate maple syrup urine disease (disorder) Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)
Intermittent maple syrup urine disease (disorder) Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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