3-methylcrotonyl CoA carboxylase 1 deficiency

Preferred Label : 3-methylcrotonyl CoA carboxylase 1 deficiency;

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

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0529769;

UMLS CUI

C0268600;

Currated CISMeF NLP mapping
- 3 alpha methylcrotonylglycinuria 1 [Disease (Nov.)]
- 3-Methylcrotonyl-CoA carboxylase deficiency [DO Concept]
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
- 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]
- methylcrotonyl-coa carboxylase deficiency [SNOMED Notion]
Has phenotype(s) (HPO)
- Feeding difficulties [HPO term]
Related record
- 3-methylcrotonyl CoA carboxylase 1 deficiency [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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