1003850000: deficiëntie van pyruvaatdehydrogenase E1-alfa (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 E1-alpha subunit deficiency (disorder)
• \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 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\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
12131531000146113	PDC-E1-alfa-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12131551000146119	deficiëntie van subunit E1-alfa 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)
12276041000146117	deficiëntie van pyruvaatdehydrogenase E1-alfa	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12276051000146119	deficiëntie van subeenheid E1-alfa 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)
12276061000146116	deficiëntie van pyruvaatdehydrogenase E1-alfa (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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