Preferred Label : Methylmalonic aciduria - homocystinuria;
ICD-11 definition : Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin)
metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental
delay, intellectual deficit and seizures. There are three complementation classes
of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic
acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and
cblF; see these terms).;
ICD-11 synonym : Methylmalonic acidaemia - homocystinuria;
Origin ID : 1836722766;
UMLS CUI : C1848561;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin)
metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental
delay, intellectual deficit and seizures. There are three complementation classes
of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic
acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and
cblF; see these terms).
