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237981000: Disorder of pyruvate metabolism and mitochondrial respiratory chain (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

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain

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

2121041000005119 Forstyrrelse af pyruvatstofskiftet og mitokondriernes respirationskæde da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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 mitochondrial encephalomyopathy with characteristics of myoclonic seizures. Patients usually present during adolescence or early adulthood with myoclonic epilepsy, sometimes with neurosensory deafness, optic atrophy, short stature or peripheral neuropathy. The disease is progressive with worsening of the epilepsy and onset of additional symptoms including ataxia, deafness, muscle weakness, and dementia. Caused by mutations in the mitochondrial DNA.	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 with characteristics of a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. NARP syndrome is a maternally inherited syndrome and women can transmit to all their offspring. Clinical severity usually depends on the mutation load.	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	Is a	True	Disorder of pyruvate metabolism and mitochondrial respiratory chain	Inferred relationship	Some
Inborn error of pyruvate metabolism	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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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
2121041000005119	Forstyrrelse af pyruvatstofskiftet og mitokondriernes respirationskæde	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)