3-methylcrotonyl CoA carboxylase 1 deficiency

Preferred Label : 3-methylcrotonyl CoA carboxylase 1 deficiency;

CISMeF synonym : 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency;

MeSH synonym : methylcrotonoyl-CoA carboxylase 1 deficiency; 3 Methylcrotonyl-CoA carboxylase deficiency; 3 methylcrotonylglycinuria; 3 alpha methylcrotonylglycinuria 1; methylcrotonylglycinuria type I; MCC1 deficiency; MCCD type 1; 3-Methylcrotonylglycinuria I; 3-Methylcrotonyl-Coa carboxylase deficiency; 3-Mcc deficiency; 3-Methylcrotonyl-Coenzyme A carboxylase deficiency; 3-Methylcrotonylglycinuria; bmcc deficiency; deficiency of Methylcrotonoyl-Coa carboxylase; mcc deficiency; Methylcrotonyl-Coa carboxylase deficiency;

Details

Origin ID

C535308;

UMLS CUI

C0268600;

Automatic exact mappings (from CISMeF team)
- 3-Methylcrotonyl-CoA carboxylase deficiency [LOINC component]
CISMeF manual mappings
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
- methylcrotonyl-coa carboxylase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- 3 alpha methylcrotonylglycinuria 1 [Disease (Nov.)]
- 3-Methylcrotonyl-CoA carboxylase deficiency [DO Concept]
- 3-methylcrotonyl-coa carboxylase 1 deficiency [OMIM Phenotype]
- 3-methylcrotonylglycinuria [ICD-11 More detail]
- Methylcrotonyl-CoA Carboxylase Deficiency [NCIt concept]
- Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) [SNOMED CT concept]
False automatic mappings
- Deficiency of methylcrotonoyl-CoA carboxylase (disorder) [Inactive SNOMED CT concept]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
MeSH term(s) associated for indexing
- carbon-carbon ligases [MeSH Descriptor]
- urea cycle disorders, inborn [MeSH Descriptor]
ORDO relation(s)
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
Record concept(s)
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH concept]
See also (suggested by CISMeF)
- beta-methylcrotonylglycine [MeSH Supplementary Concept]
- methylcrotonoyl-CoA carboxylase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
- 3-methylcrotonyl-coa carboxylase 1 deficiency [OMIM Phenotype]
- Deficiency of methylcrotonoyl-CoA carboxylase (disorder) [Inactive SNOMED CT concept]
- methylcrotonyl-coa carboxylase deficiency [SNOMED Notion]

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