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27718001: Maple syrup urine disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
46396017 Maple syrup urine disease en Synonym Active Entire term case insensitive SNOMED CT core module
46398016 Branched-chain alpha-keto acid dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
46399012 BCKD deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
46400017 MSUD en Synonym Active Entire term case sensitive SNOMED CT core module
46401018 Ketoacid decarboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
196615010 Ketoacidemia en Synonym Active Entire term case insensitive SNOMED CT core module
196616011 Branched chain ketoaciduria en Synonym Active Entire term case insensitive SNOMED CT core module
483637010 Ketoacidaemia en Synonym Active Entire term case insensitive SNOMED CT core module
758317019 Maple syrup urine disease (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1225519017 Branched chain ketoacid dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
1225520011 BCKD - Branched chain alpha-ketoacid dehydrogenase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
1225521010 MSUD - Maple syrup urine disease en Synonym Active Entire term case sensitive SNOMED CT core module
1225522015 Oxo-acid decarboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core 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
Maple syrup urine disease Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Maple syrup urine disease Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Existential restriction modifier
Maple syrup urine disease Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Maple syrup urine disease Finding site Body system structure false Inferred relationship Existential restriction modifier
Maple syrup urine disease Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
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
Mild maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Dihydrolipoamide dehydrogenase deficiency Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Thiamin-responsive maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Classical maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Maple syrup urine disease, multiple dehydrogenase form Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Intermediate maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Intermittent maple syrup urine disease Is a True Maple syrup urine disease Inferred relationship Existential restriction modifier
Blood spot maple syrup urine disease screening test Has focus True Maple syrup urine disease Inferred relationship Existential restriction modifier 3
Maple syrup urine disease not suspected Associated finding True Maple syrup urine disease Inferred relationship Existential restriction modifier 1
Suspected maple syrup urine disease Associated finding True Maple syrup urine disease Inferred relationship Existential restriction modifier 1
Maple syrup urine disease not suspected and other disorders follow up required Associated finding True Maple syrup urine disease Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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