1003849000: deficiëntie van pyruvaatdehydrogenase E2 (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\Pyruvate dehydrogenase complex E2 subunit 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\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\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
12131581000146112	PDC-E2-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12131591000146114	deficiëntie van subunit E2 van PDH-complex	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12275991000146119	deficiëntie van pyruvaatdehydrogenase E2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12276001000146115	deficiëntie van pyruvaatdehydrogenase E2 (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12276011000146118	deficiëntie van subeenheid E2 van pyruvaatdehydrogenasecomplex	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Description inactivation indicator reference set

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