Methylcrotonyl-CoA Carboxylase Deficiency

Preferred Label : Methylcrotonyl-CoA Carboxylase Deficiency;

NCIt synonyms : 3-MCC Deficiency; 3-Methylcrotonyl-CoA Carboxylase Deficiency;

NCIt definition : An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.;

Détails

Origin ID

C98674;

UMLS CUI

C4551505;

Automatic exact mappings (from CISMeF team)
- 3-Methylcrotonyl-CoA carboxylase deficiency [LOINC component]
Currated CISMeF NLP mapping
- 3 alpha methylcrotonylglycinuria 1 [Disease (Nov.)]
- 3-Methylcrotonyl-CoA carboxylase deficiency [DO Concept]
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH Supplementary Concept]
- 3-methylcrotonyl CoA carboxylase 1 deficiency [MeSH concept]
- 3-methylcrotonyl-CoA carboxylase deficiency [ORDO Disease]
- 3-methylcrotonyl-coa carboxylase 1 deficiency [OMIM Phenotype]
- 3-methylcrotonylglycinuria [ICD-11 More detail]
- Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) [SNOMED CT concept]
- methylcrotonyl-coa carboxylase deficiency [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Methylcrotonyl-CoA carboxylase deficiency [LOINC component]
- Methylcrotonyl-coenzyme A carboxylase deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- MCCC1 Gene [NCIt concept]
- MCCC2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients