Carnitine-Acylcarnitine translocase deficiency

Preferred Label : Carnitine-Acylcarnitine translocase deficiency;

MeSH note : mutation in SLC25A20;

CISMeF synonym : déficit en CACT;

MeSH synonym : CACT deficiency; Carnitine-Acylcarnitine carrier deficiency; carnitine acylcarnitine translocase deficiency;

Details

Origin ID

C562812;

UMLS CUI

C0342791;

Automatic exact mappings (from CISMeF team)
- Carnitine-acylcarnitine translocase deficiency [MedDRA Preferred Term]
- carnitine-acylcarnitine translocase deficiency [DO Concept]
- carnitine-acylcarnitine translocase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- CACT deficiency [Disease (Nov.)]
- Carnitine acylcarnitine translocase deficiency (disorder) [SNOMED CT concept]
- Carnitine-Acylcarnitine Translocase Deficiency [NCIt concept]
- Carnitine-acylcarnitine translocase deficiency [ICD-11 More detail]
- Carnitine-acylcarnitine translocase deficiency [OMIM Phenotype]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
DO Cross reference
- carnitine-acylcarnitine translocase deficiency [DO Concept]
MeSH term(s) associated for indexing
- carnitine acyltransferases [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Carnitine-Acylcarnitine translocase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CACT deficiency [Disease (Nov.)]
- Carnitine acylcarnitine translocase deficiency (disorder) [SNOMED CT concept]
- Carnitine-Acylcarnitine Translocase Deficiency [NCIt concept]
- Carnitine-acylcarnitine translocase deficiency [OMIM Phenotype]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
- Carnitine-acylcarnitine translocase deficiency [ICD-11 More detail]
- Carnitine-acylcarnitine translocase deficiency [MedDRA Preferred Term]
- carnitine-acylcarnitine translocase deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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