OMOP Concept 37163333
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
StandardConditionSNOMED1208937004Disorder
Maps from
0
Descendants
0
Valid from
31 Mar 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies across source vocabularies.
- Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
- Mitochondrial deoxyribonucleic acid depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (disorder)
- mtDNA (mitochondrial deoxyribonucleic acid) depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
- síndrome de depleción de ácido desoxirribonucleico mitocondrial, forma encefalomiopática con anomalías craneofaciales variables
- síndrome de depleción de ácido desoxirribonucleico mitocondrial, forma encefalomiopática con anomalías craneofaciales variables (trastorno)
- síndrome de depleción de ADN mitocondrial, forma encefalomiopática con anomalías craneofaciales variables
- síndrome de depleción de ADNmt (ácido desoxirribonucleico mitocondrial), forma encefalomiopática con anomalías craneofaciales variables
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(38)Roll up to these when you need a wider cohort.
- 1Mitochondrial DNA depletion syndrome encephalomyopathic form
- 2Autosomal recessive hereditary disorder
- 2Depletion of mitochondrial DNA
- 2Hereditary disorder of musculoskeletal system
- 2Inherited metabolic disorder of nervous system
- 2Mitochondrial encephalomyopathy
- 3Autosomal hereditary disorder
- 3Disorder of brain
- 3Disorder of mitochondrial respiratory chain complexes
- 3Disorder of musculoskeletal system
- 3Hereditary disorder by system
- 3Hereditary disorder of nervous system
- 3Inborn error of metabolism
- 3Mitochondrial myopathy
- 4Congenital disease
- 4Disorder of body system
- 4Disorder of head
- 4Disorder of nervous system
- 4Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 4Disorder of the central nervous system
- 4Finding of brain
- 4Hereditary disease
- 4Hereditary metabolic disease
- 4Metabolic myopathy
- 4Mitochondrial cytopathy
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