OMOP Concept 4179962
Citrin deficiency
StandardConditionSNOMED429735007Disorder
Maps from
0
Descendants
1
Valid from
31 Jan 2008
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Citrin deficiency across source vocabularies.
- Citrin deficiency (disorder)
- deficiencia de citrina
- deficiencia de citrina asociada con SLC25A13
- deficiencia de citrina (trastorno)
- SLC25A13 related citrin deficiency
- Solute carrier family 25 member 13 related citrin deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(17)Roll up to these when you need a wider cohort.
- 1Citrullinemia
- 2Aminoacidemia
- 2Autosomal recessive hereditary disorder
- 2Disorder of the urea cycle metabolism
- 2Enzymopathy
- 2Hereditary metabolic disease
- 3Acidemia
- 3Autosomal hereditary disorder
- 3Disorder of amino acid and organic acid metabolism
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Disorder of acid-base balance
- 4Disorder of amino acid metabolism
- 4Genetic disease
- 5Clinical finding
- 5Disorder of organic acid metabolism
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