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46683007: Pyruvate dehydrogenase complex deficiency (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

494578013 Deficiency of pyruvate dehydrogenase (cytochrome) en Synonym Active Case insensitive SNOMED CT core

494579017 Deficiency of pyruvic dehydrogenase en Synonym Active Case insensitive SNOMED CT core

494580019 Ataxia with lactic acidosis en Synonym Active Case insensitive SNOMED CT core

494581015 PDH - Pyruvate dehydrogenase deficiency en Synonym Active Case sensitive SNOMED CT core

494582010 Pyruvate dehydrogenase deficiency en Synonym Active Case insensitive SNOMED CT core

77798015 Pyruvate dehydrogenase complex deficiency en Synonym Active Case insensitive SNOMED CT core

77799011 PDH deficiency en Synonym Active Case sensitive SNOMED CT core

77800010 Ataxia with lactic acidosis I en Synonym Active Initial character case insensitive SNOMED CT core

784059014 Pyruvate dehydrogenase complex deficiency (disorder) en Fully specified name Active Case insensitive SNOMED CT core

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	Is a	True	Pyruvate dehydrogenase complex deficiency	Inferred relationship	Some
Pyruvate dehydrogenase phosphatase deficiency	Is a	True	Pyruvate dehydrogenase complex deficiency	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Id	Description	Lang	Type	Status	Case?	Module
494578013	Deficiency of pyruvate dehydrogenase (cytochrome)	en	Synonym	Active	Case insensitive	SNOMED CT core
494579017	Deficiency of pyruvic dehydrogenase	en	Synonym	Active	Case insensitive	SNOMED CT core
494580019	Ataxia with lactic acidosis	en	Synonym	Active	Case insensitive	SNOMED CT core
494581015	PDH - Pyruvate dehydrogenase deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
494582010	Pyruvate dehydrogenase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
77798015	Pyruvate dehydrogenase complex deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
77799011	PDH deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
77800010	Ataxia with lactic acidosis I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
784059014	Pyruvate dehydrogenase complex deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core