neurodegeneration due to cerebral folate transport deficiency

Preferred Label : neurodegeneration due to cerebral folate transport deficiency;

MeSH note : associated with mutaiton in FOLR1;

Origin ID

C567791;

UMLS CUI

C2751584;

CISMeF manual mappings
- Cerebral folate transport deficiency (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Neurodegeneration due to cerebral folate transport deficiency [OMIM Phenotype]
- Neurodegenerative syndrome due to cerebral folate transport deficiency [ORDO Disease]
- cerebral folate transport deficiency [Disease (Nov.)]
- neurodegeneration due to cerebral folate transport deficiency [Disease (Nov.)]
HPO term
- Decreased CSF 5-methyltetrahydrofolate concentration [HPO term]
MeSH term(s) associated for indexing
- folate receptor 1 [MeSH Descriptor]
- neuroaxonal dystrophies [MeSH Descriptor]
Record concept(s)
- neurodegeneration due to cerebral folate transport deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebral folate deficiency [MedDRA Preferred Term]
- Cerebral folate transport deficiency (disorder) [SNOMED CT concept]
- Neurodegeneration due to cerebral folate transport deficiency [OMIM Phenotype]
- Neurodegenerative syndrome due to cerebral folate transport deficiency [ORDO Disease]
- cerebral folate transport deficiency [Disease (Nov.)]
- neurodegeneration due to cerebral folate transport deficiency [Disease (Nov.)]