46683007: deficiëntie van pyruvaatdehydrogenase (aandoening)

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:

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

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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
238851000146111	deficiëntie van pyruvaatdehydrogenasecomplex	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
238861000146114	deficiëntie van pyruvaatdehydrogenase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
238871000146115	deficiëntie van pyruvaatdehydrogenase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
238881000146118	PDH-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
238891000146116	PDH-complex-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)