1003849000: Pyruvate dehydrogenase complex E2 subunit deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase complex E2 subunit deficiency
• \Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase complex E2 subunit deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase complex E2 subunit deficiency
• \Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Increased anion gap\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase complex E2 subunit deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase complex E2 subunit deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4166816017	Pyruvate dehydrogenase complex E2 subunit deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4166817014	Pyruvate dehydrogenase complex E2 subunit deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7693911000241115	DPDH (déficit en pyruvate déshydrogénase) E2	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7693921000241110	déficit en sous-unité E2 du complexe pyruvate déshydrogénase	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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