Methylmalonic acidemia with homocystinuria

Preferred Label : Methylmalonic acidemia with homocystinuria;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531820;

UMLS CUI

C1848561;

Currated CISMeF NLP mapping
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic Aciduria and Homocystinuria, cblC Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- Methylmalonic aciduria - homocystinuria [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
- cobalamin c disease [SNOMED Notion]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
False automatic mappings
- Methylmalonic acidemia without homocystinuria [ORDO Disease]
Related record
- methylmalonic acidemia with homocystinuria [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cobalamin C disease (disorder) [SNOMED CT concept]
- Methylmalonic Aciduria and Homocystinuria, cblC Type [NCIt concept]
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
- Methylmalonic acidemia with homocystinuria, type cblC [ORDO Disease]
- Methylmalonic aciduria - homocystinuria [ICD-11 More detail]
- Methylmalonic aciduria - homocystinuria type cbl C [ICD-11 More detail]
- Methylmalonic aciduria and homocystinuria, cblc type [OMIM Phenotype]
- cobalamin c disease [SNOMED Notion]
- methylmalonic aciduria and homocystinuria type cblC [DO Concept]
Validated automatic mappings to BTNT
- Methylmalonic aciduria - homocystinuria type cbl C [ICD-11 More detail]