Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type

Preferred Label : Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type;

MeSH synonym : methylcobalamin deficiency, CblE type; vitamin B12-Responsive homocystinuria, CblE type;

Details

Origin ID

C565510;

UMLS CUI

C1856057;

Currated CISMeF NLP mapping
- Homocystinuria-Megaloblastic Anemia, cblE Complementation Type [NCIt concept]
- Homocystinuria-megaloblastic anemia, cble type [OMIM Phenotype]
- Methylcobalamin deficiency type cbl E [ICD-11 More detail]
- Methylcobalamin deficiency type cblE [ORDO Disease]
MeSH term(s) associated for indexing
- anemia, megaloblastic [MeSH Descriptor]
- homocystinuria [MeSH Descriptor]
Record concept(s)
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homocystinuria-Megaloblastic Anemia, cblE Complementation Type [NCIt concept]
- Homocystinuria-megaloblastic anemia, cble type [OMIM Phenotype]
- Methylcobalamin deficiency type cbl E [ICD-11 More detail]
- Methylcobalamin deficiency type cblE [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients