Methylcobalamin deficiency type cbl E

Preferred Label : Methylcobalamin deficiency type cbl E;

ICD-11 synonym : Homocystinuria - megaloblastic anaemia due to defect in cobalamin metabolism, cbI E complementation type; Homocystinuria due to defect in methylation type cbl E;

Details

Origin ID

1615371226;

UMLS CUI

C1856057;

Currated CISMeF NLP mapping
- Homocystinuria-Megaloblastic Anemia, cblE Complementation Type [NCIt concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH Supplementary Concept]
- Homocystinuria-megaloblastic anemia, cble type [OMIM Phenotype]
- Methylcobalamin deficiency type cblE [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homocystinuria-Megaloblastic Anemia, cblE Complementation Type [NCIt concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH Supplementary Concept]
- Homocystinuria-megaloblastic anemia, cble type [OMIM Phenotype]
- Methylcobalamin deficiency type cblE [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients