OMOP Concept 37395779
Fatal infantile lactic acidosis with methylmalonic aciduria
StandardConditionSNOMED715338007Disorder
Maps from
1
Descendants
0
Valid from
31 Jul 2016
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Fatal infantile lactic acidosis with methylmalonic aciduria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C580473 | Succinate-Coa Ligase Deficiency | Non-standard |
Synonyms
Alternative names recorded for Fatal infantile lactic acidosis with methylmalonic aciduria across source vocabularies.
- acidosis láctica infantil concomitante con aciduria metilmalónica fatal
- acidosis láctica infantil concomitante con aciduria metilmalónica fatal (trastorno)
- Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria
- Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (disorder)
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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