OMOP Concept 4031796
Disorder of pyruvate metabolism and mitochondrial respiratory chain
StandardConditionSNOMED237981000Disorder
Maps from
1
Descendants
85
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Disorder of pyruvate metabolism and mitochondrial respiratory chain via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 237981000 | Disorder of pyruvate metabolism and mitochondrial respiratory chain | Non-standard |
Synonyms
Alternative names recorded for Disorder of pyruvate metabolism and mitochondrial respiratory chain across source vocabularies.
- Disorder of pyruvate metabolism and mitochondrial respiratory chain (disorder)
- trastorno del metabolismo del piruvato y de la cadena respiratoria mitocondrial
- trastorno del metabolismo del piruvato y de la cadena respiratoria mitocondrial (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(9)Roll up to these when you need a wider cohort.
Narrower concepts
(85)Included automatically when you query with descendants.
- 1Dihydrolipoamide dehydrogenase deficiency
- 1Disorder of mitochondrial respiratory chain complexes
- 1Disorders of pyruvate metabolism and gluconeogenesis
- 1Fumarate hydratase deficiency
- 1Inborn error of pyruvate metabolism
- 1Kearns-Sayre syndrome
- 1Lactate dehydrogenase deficiency
- 1Leber's optic atrophy
- 1NARP syndrome
- 1Pearson's syndrome
- 23-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
- 2Acyl-CoA dehydrogenase 9 deficiency
- 2Combined oxidative phosphorylation defect type 23
- 2Combined oxidative phosphorylation defect type 26
- 2Combined oxidative phosphorylation defect type 27
- 2Combined oxidative phosphorylation defect type 29
- 2Combined oxidative phosphorylation defect type 30
- 2Deficiency in enzyme complexes of mitochondrial respiratory chain
- 2Deficiency of D-lactate dehydrogenase
- 2Deficiency of L-lactate dehydrogenase
- 2Deficiency of L-lactate dehydrogenase (cytochrome)
- 2Deletion and duplication of mitochondrial DNA
- 2Depletion of mitochondrial DNA
- 2DNA2-related mitochondrial DNA deletion syndrome
- 2Growth and developmental delay, hypotonia, vision impairment, lactic acidosis syndrome
- 2Leber plus disease
- 2Lethal infantile mitochondrial myopathy
- 2Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome
- 2Mitochondrial pyruvate carrier deficiency
- 2Multiple mitochondrial dysfunctions syndrome
- 2Muscle L-lactate dehydrogenase deficiency
- 2Phosphoenolpyruvate carboxykinase (GTP) deficiency
- 2Pyruvate carboxylase deficiency
- 2Pyruvate dehydrogenase complex deficiency
- 2QRSL1-related combined oxidative phosphorylation defect
- 2Severe X-linked mitochondrial encephalomyopathy
- 2Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
- 3Adult-onset multiple mitochondrial deoxyribonucleic acid deletion syndrome due to deoxyguanosine kinase deficiency
- 3Combined complex deficiencies
- 3Combined oxidative phosphorylation defect type 25
- 3Cytochrome-c oxidase deficiency
- 3Deficiency of cytochrome-b-5 reductase
- 3Deficiency of NADPH-ferrihemoprotein reductase
- 3Deficiency of NAPH cytochrome-c-2 reductase
- 3Isolated ATP synthase deficiency
- 3Mitochondrial deoxyribonucleic acid depletion syndrome myopathic form
- 3Mitochondrial DNA depletion syndrome encephalomyopathic form
- 3Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- 3Mitochondrial DNA depletion syndrome hepatocerebrorenal form
- 3Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
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