OMOP Concept 37162655
Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
StandardConditionSNOMED1197052008Disorder
Maps from
0
Descendants
0
Valid from
28 Feb 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria across source vocabularies.
- Booth Haworth Dilling syndrome
- Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria
- Mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria (disorder)
- Mitochondrial encephalomyopathy aminoacidopathy syndrome
- mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria
- síndrome de Booth Haworth Dilling
- síndrome de depleción de ácido desoxirribonucleico mitocondrial forma encefalomiopática con aciduria metilmalónica
- síndrome de depleción de ácido desoxirribonucleico mitocondrial forma encefalomiopática con aciduria metilmalónica (trastorno)
- síndrome de depleción del ADNmt forma encefalomiopática con aciduria metilmalónica
- síndrome de encefalomiopatía mitocondrial aminoacidopatía
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(47)Roll up to these when you need a wider cohort.
- 1Methylmalonic acidemia
- 1Mitochondrial DNA depletion syndrome encephalomyopathic form
- 2Acidemia
- 2Autosomal recessive hereditary disorder
- 2Depletion of mitochondrial DNA
- 2Disorder of branched-chain amino acid metabolism
- 2Disorder of propionate AND/OR methylmalonate metabolism
- 2Hereditary disorder of musculoskeletal system
- 2Inherited metabolic disorder of nervous system
- 2Mitochondrial encephalomyopathy
- 2Non-amino organic acidemia AND/OR aciduria
- 3Autosomal hereditary disorder
- 3Disorder of acid-base balance
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of brain
- 3Disorder of mitochondrial respiratory chain complexes
- 3Disorder of musculoskeletal system
- 3Disorder of organic acid metabolism
- 3Hereditary disorder by system
- 3Hereditary disorder of nervous system
- 3Inborn error of metabolism
- 3Mitochondrial myopathy
- 4Congenital disease
- 4Disorder of amino acid metabolism
- 4Disorder of body system
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