OMOP Concept 37472141
Carnosinase deficiency disorder
StandardConditionSNOMED1373509009Disorder
Maps from
0
Descendants
0
Valid from
1 Oct 2025
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Carnosinase deficiency disorder across source vocabularies.
- Carnosinase deficiency disorder (disorder)
- trastorno por deficiencia de carnosinasa
- trastorno por deficiencia de carnosinasa (trastorno)
- trastorno por déficit de carnosinasa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Carnosinemia
- 1Carnosinuria
- 1Inborn error of metabolism
- 2Autosomal hereditary disorder
- 2Clinical manifestation of enzyme deficiency
- 2Congenital disease
- 2Hereditary metabolic disease
- 3Fetal and/or neonatal disorder
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Genetic disease
- 5Clinical finding
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