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237981000: Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
356681017 Disorder of pyruvate metabolism and mitochondrial respiratory chain en Synonym Active Case insensitive SNOMED CT core
626794018 Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder) en Fully specified name Active Case insensitive SNOMED CT core


82 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of pyruvate metabolism and mitochondrial respiratory chain Finding site Body system structure false Inferred relationship Some
Disorder of pyruvate metabolism and mitochondrial respiratory chain Occurrence Congenital true Inferred relationship Some 1
Disorder of pyruvate metabolism and mitochondrial respiratory chain Is a Inborn error of metabolism true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Inborn error of pyruvate metabolism Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Kearns-Sayre syndrome Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Dihydrolipoamide dehydrogenase deficiency Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Pyruvate dehydrogenase complex deficiency Is a False Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Phosphoenolpyruvate carboxykinase (GTP) deficiency Is a False Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Leber's optic atrophy Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Pyruvate carboxylase deficiency Is a False Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Disorders of pyruvate metabolism and gluconeogenesis Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Myoclonic epilepsy with ragged red fibres Is a False Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Lactate dehydrogenase deficiency Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Fumarase deficiency Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Neurogenic muscle weakness, ataxia and retinitis pigmentosa Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Pearson's syndrome Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Mitochondrial respiratory chain complexes disorder Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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