Carnitine acetyltransferase deficiency

Preferred Label : Carnitine acetyltransferase deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Prefixed ID : 606175;

Details

Origin ID

606175;

UMLS CUI

C1443228;

Automatic exact mappings (from CISMeF team)
- Carnitine O-palmitoyltransferase deficiency [PASCAL descriptor]
- Deficiency of carnitine acetyltransferase (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- carnitine acetyltransferase deficiency [MeSH concept]
- carnitine acetyltransferase deficiency [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of carnitine acetyltransferase (disorder) [SNOMED CT concept]
- carnitine acetyltransferase deficiency [MeSH Supplementary Concept]
- carnitine acetyltransferase deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

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