46683007: Pyruvate dehydrogenase complex deficiency (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Pyruvate dehydrogenase complex deficiency

\trouble métabolique\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\Pyruvate dehydrogenase complex deficiency
\trouble métabolique\Disorder of acid-base balance\acidose\acidose métabolique\Metabolic acidosis, increased anion gap (disorder)\Metabolic acidosis, increased anion gap, accumulation of organic acids (disorder)\Lactic acidosis\Pyruvate dehydrogenase complex deficiency

\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism (disorder)\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

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

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

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	est un(e) (attribut)	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	est un(e) (attribut)	Inborn error of pyruvate metabolism (disorder)	true	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	est un(e) (attribut)	Lactic acidosis	true	Inferred relationship	Some
Pyruvate dehydrogenase complex deficiency	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Pyruvate dehydrogenase complex deficiency	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

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

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)