arakawa syndrome 2

Preferred Label : arakawa syndrome 2;

MeSH synonym : tetrahydrofolate-methyltransferase deficiency syndrome; N5-methylhomocysteine transferase deficiency; arakawa's syndrome 2; methionine synthase deficiency;

Details

Origin ID

C537426;

UMLS CUI

C0268611;

Currated CISMeF NLP mapping
- Arakawa Syndrome II [NCIt concept]
- Decreased methionine synthase activity [HPO term]
- Tetrahydrofolate methyltransferase deficiency (disorder) [SNOMED CT concept]
- tetrahydrofolate methyltransferase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase [MeSH Descriptor]
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Arakawa syndrome 2 [MeSH concept]
See also inter- (CISMeF)
- Homocystinuria without methylmalonic aciduria [ICD-11 More detail]
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arakawa Syndrome II [NCIt concept]
- Tetrahydrofolate methyltransferase deficiency (disorder) [SNOMED CT concept]
- tetrahydrofolate methyltransferase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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