Homocystinuria-Megaloblastic Anemia, cblE Complementation Type

Preferred Label : Homocystinuria-Megaloblastic Anemia, cblE Complementation Type;

NCIt synonyms : Methylcobalamin Deficiency, cblE Type; HMAE;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.;

Details

Origin ID

C142173;

UMLS CUI

C1856057;

Automatic exact mappings (from CISMeF team)
- homocystinuria-megaloblastic anemia cblE type [DO Concept]
Currated CISMeF NLP mapping
- 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 cbl E [ICD-11 More detail]
- Methylcobalamin deficiency type cblE [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH Supplementary Concept]
- Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, CblE complementation type [MeSH concept]
- Homocystinuria-megaloblastic anemia, cble type [OMIM Phenotype]
- Methylcobalamin deficiency type cbl E [ICD-11 More detail]
- Methylcobalamin deficiency type cblE [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MTRR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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