46683007: Pyruvate dehydrogenase complex 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\Pyruvate dehydrogenase complex deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate dehydrogenase complex deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate dehydrogenase complex 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

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

77798015 Pyruvate dehydrogenase complex deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

77799011 PDH deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

77800010 Ataxia with lactic acidosis I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

494578013 Deficiency of pyruvate dehydrogenase (cytochrome) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

494579017 Deficiency of pyruvic dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

494580019 Ataxia with lactic acidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

494581015 PDH - Pyruvate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

494582010 Pyruvate dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

784059014 Pyruvate dehydrogenase complex deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyruvate dehydrogenase complex deficiency	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	Is a	Inborn error of pyruvate metabolism	true	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	Is a	Lactic acidosis	true	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Pyruvate dehydrogenase complex deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pyruvate dehydrogenase complex E1 beta subunit deficiency	Is a	True	Pyruvate dehydrogenase complex deficiency	Inferred relationship	Some
Pyruvate dehydrogenase complex E2 subunit deficiency	Is a	True	Pyruvate dehydrogenase complex deficiency	Inferred relationship	Some
Pyruvate dehydrogenase complex E1-alpha subunit deficiency (disorder)	Is a	True	Pyruvate dehydrogenase complex deficiency	Inferred relationship	Some
Pyruvate dehydrogenase phosphatase deficiency (disorder)	Is a	True	Pyruvate dehydrogenase complex deficiency	Inferred relationship	Some

This concept is not in any reference sets