1003851001: Pyruvate dehydrogenase complex E1 beta subunit 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\Pyruvate dehydrogenase complex E1 beta 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 E1 beta 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 E1 beta subunit deficiency

\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 beta 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

4170270016 Pyruvate dehydrogenase complex E1 beta subunit deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4170271017 Pyruvate dehydrogenase complex E1 beta subunit deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4101281000172119 deficiëntie van subunit E1-bèta van PDH-complex nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4101291000172116 deficiëntie van pyruvaatdehydrogenase E1-bèta nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4101301000172115 PDC-E1-bèta-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4101311000172117 deficiëntie van subeenheid E1-bèta van pyruvaatdehydrogenasecomplex nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pyruvate dehydrogenase complex E1 beta subunit deficiency	Is a	Pyruvate dehydrogenase complex deficiency	true	Inferred relationship	Some
Pyruvate dehydrogenase complex E1 beta subunit deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets