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46683007: Pyruvate dehydrogenase complex deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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


4 descendants. Search Descendants:

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 Existential restriction modifier
Pyruvate dehydrogenase complex deficiency Is a Inborn error of pyruvate metabolism true Inferred relationship Existential restriction modifier
Pyruvate dehydrogenase complex deficiency Is a Lactic acidosis true Inferred relationship Existential restriction modifier
Pyruvate dehydrogenase complex deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Pyruvate dehydrogenase complex deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Pyruvate dehydrogenase complex E1 beta subunit deficiency Is a True Pyruvate dehydrogenase complex deficiency Inferred relationship Existential restriction modifier
Pyruvate dehydrogenase complex E2 subunit deficiency Is a True Pyruvate dehydrogenase complex deficiency Inferred relationship Existential restriction modifier
Pyruvate dehydrogenase complex E1-alpha subunit deficiency Is a True Pyruvate dehydrogenase complex deficiency Inferred relationship Existential restriction modifier
Pyruvate dehydrogenase phosphatase deficiency Is a True Pyruvate dehydrogenase complex deficiency Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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