1003850000: Pyruvate dehydrogenase complex E1-alpha 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 E1-alpha subunit deficiency (disorder)

\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 E1-alpha subunit deficiency (disorder)

\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 E1-alpha subunit deficiency (disorder)
\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 E1-alpha subunit deficiency (disorder)
\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 E1-alpha subunit deficiency (disorder)

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

4166818016 Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4166819012 Pyruvate dehydrogenase complex E1-alpha subunit deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

7693941000241119 DPDH (déficit en pyruvate déshydrogénase) E1-alpha fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7693951000241116 déficit en sous-unité E1 alpha 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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder)	Is a	Pyruvate dehydrogenase complex deficiency	true	Inferred relationship	Some
Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set