OMOP Concept 4188467
Inherited disorder of folate metabolism
StandardConditionSNOMED4702003Disorder
Maps from
2
Descendants
7
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Inherited disorder of folate metabolism via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 137136 | Inherited disorder of folate metabolism | Non-standard |
| Nebraska Lexicon | 4702003 | Inherited disorder of folate metabolism | Non-standard |
Synonyms
Alternative names recorded for Inherited disorder of folate metabolism across source vocabularies.
- Inherited disorder of folate metabolism (disorder)
- trastorno hereditario del metabolismo de folatos
- trastorno hereditario del metabolismo de folatos (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(10)Roll up to these when you need a wider cohort.
Narrower concepts
(7)Included automatically when you query with descendants.
- 15,10-Methylenetetrahydrofolate reductase deficiency
- 1Congenital defect of folate absorption
- 1Glutamate formiminotransferase deficiency
- 1Methylene THF reductase deficiency AND homocystinuria
- 1MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome
- 1Tetrahydrofolate methyltransferase deficiency
- 2Homozygous C6777T methylenetetrahydrofolate reductase deficiency
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