methylmalonic acidemia with homocystinuria

Preferred Label : methylmalonic acidemia with homocystinuria;

MeSH synonym : methylmalonic acidemia and homocystinuria cblC type; Cobalamin-C methylmalonic acidemia and homocystinuria; methylmalonic acidemia and homocystinemia; methylmalonic acidemia and homocystinuria, CblC type; methylmalonic aciduria and homocystinuria, vitamin B12-Responsive; methylmalonic aciduria and homocystinuria, CblC type;

Details

Origin ID

C537359;

UMLS CUI

C1848561;

Automatic exact mappings (from CISMeF team)
- Decreased methylcobalamin [HPO term]
- Homocystinuria without methylmalonic aciduria [ORDO Disease]
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]
MeSH term(s) associated for indexing
- amino acid metabolism, inborn errors [MeSH Descriptor]
- homocystinuria [MeSH Descriptor]
- vitamin b 12 deficiency [MeSH Descriptor]
ORDO relation(s)
- Methylmalonic acidemia with homocystinuria [ORDO Disease]
Record concept(s)
- Methylmalonic acidemia with homocystinuria [MeSH concept]
See also (suggested by CISMeF)
- methylmalonic acid [MeSH Descriptor]
See also inter- (CISMeF)
- Homocystinuria without methylmalonic aciduria [ICD-11 More detail]
- Homocystinuria without methylmalonic aciduria (disorder) [SNOMED CT 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]

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