OMOP Concept 4285146
Aminomethyltransferase deficiency
StandardConditionSNOMED67845009Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
3 source codes normalize to Aminomethyltransferase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 121659 | Aminomethyltransferase deficiency | Non-standard |
| CIEL | 121660 | Type II Nonketotic Hyperglycinemia | Non-standard |
| Nebraska Lexicon | 67845009 | Aminomethyltransferase deficiency | Non-standard |
Synonyms
Alternative names recorded for Aminomethyltransferase deficiency across source vocabularies.
- Aminomethyltransferase deficiency (disorder)
- deficiencia de aminometiltransferasa
- deficiencia de aminometiltransferasa (trastorno)
- deficiencia de proteína T
- deficiencia de tetrahidrofolato aminometiltransferasa
- hiperglicinemia no cetósica, tipo II
- Non-ketotic hyperglycinaemia T protein deficiency
- Non-ketotic hyperglycinaemia type II
- Nonketotic hyperglycinaemia, type II
- Non-ketotic hyperglycinemia T protein deficiency
- Non-ketotic hyperglycinemia type II
- Nonketotic hyperglycinemia, type II
- Tetrahydrofolate aminomethyltransferase deficiency
- T protein deficiency
- T-protein deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(21)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Enzymopathy
- 1Inborn error of metabolism
- 1Non-ketotic hyperglycinemia
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Hereditary metabolic disease
- 2Hyperglycinemia
- 2Metabolic disease
- 3Aminoacidemia
- 3Disease
- 3Disorder of fetus and/or newborn
- 3Disorder of glycine metabolism
- 3Hereditary disease
- 4Acidemia
- 4Clinical finding
- 4Disorder of amino acid and organic acid metabolism
- 4Genetic disease
- 5Disorder of acid-base balance
- 5Disorder of amino acid metabolism
- 6Disorder of organic acid metabolism
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