237986005: Disorder of mitochondrial respiratory chain complexes (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 mitochondrial respiratory chain complexes

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Deletion and duplication of mitochondrial DNA	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Depletion of mitochondrial DNA	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes.	Due to	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some	3
Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare disorder characterized by neurological dysfunction, hepatic failure and cardiomyopathy due to a deficiency of complex I of the respiratory chain.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insufficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994.	Is a	False	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency is a rare, hereditary, mitochondrial oxidative phosphorylation disorder characterized by severe neonatal lactic acidosis and deficiency of mitochondrial complexes I, II and III. Clinical features are variable and may include hypotonia, respiratory distress with cyanosis, failure to thrive, feeding difficulties, hypoglycemia, dehydration, vomiting, seizures, and a risk of multiple organ failure.	Due to	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some	2
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterised by neonatal hypoglycaemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterized by neonatal onset of hypotonia, feeding difficulties, deafness, and early fatal respiratory failure. Cardiac and liver involvement has been reported. Serum lactate is increased, and metabolic studies show decreased activity of mitochondrial respiratory complexes I and IV in skeletal muscle.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterized by microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction, and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterized by a variable clinical phenotype including infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder, and liver involvement, as well as childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment, and progressive tetraparesis. Serum lactate may be increased, and brain imaging shows variable atrophy and white matter abnormalities.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype which may present as exercise intolerance with prominent exertional dyspnea, progressive muscle weakness, spasticity, and neuropathy, but without cognitive impairment or cardiac involvement, or as global developmental delay, growth retardation, hypotonia, and spasticity. Hypertrophic cardiomyopathy, optic atrophy, seizures, and dysmorphic facial features have also been reported in the more severe phenotype. Serum lactate may be elevated, and muscle biopsy shows myopathic features and variably decreased activity of mitochondrial respiratory chain complexes.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial disease characterized by early onset of hypertrophic cardiomyopathy and variable neurologic symptoms including global developmental delay, hypotonia, intellectual disability, visual impairment, and seizures. Lactic acidosis is present in all patients. Muscle biopsy usually shows decreased activity of mitochondrial complexes I and IV. Brain imaging may reveal variable abnormal signal intensities in the thalamus, basal ganglia, and/or brain stem.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial disease characterized by prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss, and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
A rare mitochondrial disease characterized by a variable phenotype comprising congenital sensorineural deafness, intermittent or persistent hypoglycemia, and hepatic and renal dysfunction potentially progressing to organ failure. Serum lactate levels are variably increased, deficiency of mitochondrial respiratory chain complexes I, III, and IV is observed in the liver and in fibroblasts.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders.	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some
Coenzyme Q10 deficiency (disorder)	Is a	True	Disorder of mitochondrial respiratory chain complexes	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
356689015	Disorder of mitochondrial respiratory chain complexes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626800010	Disorder of mitochondrial respiratory chain complexes (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3037022018	Mitochondrial disorder, respiratory chain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6062641000241112	trouble des complexes de la mitochondrie de la chaine respiratoire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6062651000241110	trouble des complexes mitochondriaux de la chaine respiratoire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module