OMOP Concept 46272948
Cerebral folate transport deficiency
StandardConditionSNOMED711403001Disorder
Maps from
2
Descendants
0
Valid from
31 Jul 2015
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Cerebral folate transport deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| HPO | HP_0012446 | Decreased CSF 5-methyltetrahydrofolate concentration | Non-standard |
| MeSH | C567791 | Neurodegeneration Due To Cerebral Folate Transport Deficiency | Non-standard |
Synonyms
Alternative names recorded for Cerebral folate transport deficiency across source vocabularies.
- Cerebral folate deficiency
- Cerebral folate transport deficiency (disorder)
- deficiencia de folato cerebral
- deficiencia de transporte de folato cerebral
- deficiencia de transporte de folato cerebral (trastorno)
- neurodegeneración debida a deficiencia de transporte de folato cerebral
- Neurodegeneration due to cerebral folate transport deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(24)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of brain
- 1Folic acid deficiency (non anemic)
- 1Hereditary disorder of nervous system
- 2Autosomal hereditary disorder
- 2Disorder of head
- 2Disorder of nervous system
- 2Disorder of the central nervous system
- 2Finding of brain
- 2Folic acid deficiency
- 2Hereditary disorder by system
- 3Central nervous system finding
- 3Disease
- 3Disorder of body system
- 3Head finding
- 3Hereditary disease
- 3Vitamin deficiency
- 4Clinical finding
- 4Deficiency of micronutrients
- 4Genetic disease
- 4Vitamin disease
- 5Nutritional disorder
- 5Undernutrition
- 6Nutritional deficiency disorder
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