acetyl-coa: carboxylase deficiency

Preferred Label : acetyl-coa: carboxylase deficiency;

Origin ID

D6-B2260;

UMLS CUI

C0268603;

CISMeF manual mappings
- Acetyl-Coa carboxylase deficiency [MeSH concept]
Currated CISMeF NLP mapping
- Acetyl-Coa carboxylase deficiency [MeSH Supplementary Concept]
- Acetyl-coa carboxylase-alpha deficiency [OMIM Phenotype]
- Deficiency of acetyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Disorders of lysine and hydroxylysine metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
- pediatrics [CISMeF Metaterm]
Référence SNOMED
- acetyl-coa carboxylase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
SNOMED CT concept
- Deficiency of acetyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetyl-Coa carboxylase deficiency [MeSH Supplementary Concept]
- Acetyl-Coa carboxylase deficiency [MeSH concept]
- Acetyl-coa carboxylase-alpha deficiency [OMIM Phenotype]
- Deficiency of acetyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]