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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
626794018 Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6071991000241113 trouble métabolique du pyruvate et de la chaine respiratoire mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6072001000241111 trouble du métabolisme du pyruvate et de la chaine respiratoire mitochondriale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

91 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Disorder of pyruvate metabolism and mitochondrial respiratory chain Is a Inborn error of metabolism true Inferred relationship Some
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
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare mitochondrial oxidative phosphorylation disorder characterized by myoclonic seizures, ataxia, generalized epilepsy, muscle weakness and ragged red fibers in the muscle biopsy. 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
Fumarate hydratase deficiency Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
A clinically heterogeneous progressive condition characterised by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. 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
Disorder of mitochondrial respiratory chain complexes 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 (disorder) Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some
Inborn error of pyruvate metabolism (disorder) Is a True Disorder of pyruvate metabolism and mitochondrial respiratory chain Inferred relationship Some

This concept is not in any reference sets

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