Arakawa Syndrome II

Preferred Label : Arakawa Syndrome II;

NCIt synonyms : Arakawa's Syndrome 2; Methylcobalamin Deficiency, cblG Type; Homocystinuria-Megaloblastic Anemia, cblG Complementation Type; Arakawa's Syndrome II;

NCIt related terms : Methionine Synthase Deficiency; Tetrahydrofolate Methyltransferase Deficiency;

NCIt definition : A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.;

Details

Origin ID

C99081;

UMLS CUI

C0268611;

Automatic exact mappings (from CISMeF team)
- Homocystinuria-megaloblastic anemia, cblg complementation type [OMIM Phenotype]
- Methylcobalamin deficiency type cblG [ORDO Disease]
- homocystinuria-megaloblastic anemia cblG type [DO Concept]
- methylcobalamin deficiency, CblG type [MeSH concept]
- methylcobalamin deficiency, CblG type [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Arakawa syndrome 2 [MeSH concept]
- Decreased methionine synthase activity [HPO term]
- Tetrahydrofolate methyltransferase deficiency (disorder) [SNOMED CT concept]
- arakawa syndrome 2 [MeSH Supplementary Concept]
- tetrahydrofolate methyltransferase deficiency [SNOMED Notion]
See also inter- (CISMeF)
- Homocystinuria without methylmalonic aciduria [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arakawa syndrome 2 [MeSH concept]
- Tetrahydrofolate methyltransferase deficiency (disorder) [SNOMED CT concept]
- arakawa syndrome 2 [MeSH Supplementary Concept]
- tetrahydrofolate methyltransferase deficiency [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MTR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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