Homocystinuria without methylmalonic aciduria

Preferred Label : Homocystinuria without methylmalonic aciduria;

ICD-11 definition : Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia.;

ICD-11 synonym : Methionine synthase deficiency; Methylcobalamin deficiency; N5-methylhomocysteine transferase deficiency; 5-methyltetrahydrofolate-homocysteine s-methyltransferase;

Détails

Origin ID

726186034;

Automatic exact mappings (from CISMeF team)
- 5-methyltetrahydrofolate-homocysteine s-methyltransferase [OMIM gene]
- Decreased methionine synthase activity [HPO term]
Currated CISMeF NLP mapping
- Decreased methylcobalamin [HPO term]
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
- Homocystinuria without methylmalonic aciduria (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- 5-Methyltetrahydrofolate homocysteine methyltransferase [LOINC component]
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase [MeSH concept]
- 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase [MeSH Descriptor]
- Arakawa Syndrome II [NCIt concept]
- Homocystinuria-megaloblastic anemia, cblg type [OMIM Phenotype]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia without homocystinuria [ORDO Disease]
- arakawa syndrome 2 [MeSH Supplementary Concept]
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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