methylmalonic aciduria and homocystinuria, CblF type

Preferred Label : methylmalonic aciduria and homocystinuria, CblF type;

MeSH note : mutation in LMBRD1;

MeSH synonym : cobalamin, defect in lysosomal release of; vitamin B12 storage disease; methylmalonic aciduria due to vitamin B12-Release defect; vitamin B12 lysosomal release defect; cobalamin F disease; methylmalonic acidemia and homocystinuria, CblF type;

Details

Origin ID

C564747;

UMLS CUI

C1848578;

Automatic exact mappings (from CISMeF team)
- Methylmalonic Aciduria and Homocystinuria, cblF Type [NCIt concept]
Currated CISMeF NLP mapping
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl F [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblf type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- methylmalonic aciduria and homocystinuria, CblF type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic Aciduria and Homocystinuria, cblF Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria type cblF [ORDO Disease]
- Methylmalonic aciduria - homocystinuria type cbl F [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblf type [OMIM Phenotype]
- methylmalonic aciduria and homocystinuria type cblF [DO Concept]

Keyword's position in hierarchy(ies) :

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