carnitine palmitoyltransferase II deficiency, infantile

Preferred Label : carnitine palmitoyltransferase II deficiency, infantile;

MeSH note : mutation in Carnitine O-Palmitoyltransferase;

MeSH synonym : carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia; carnitine palmitoyltransferase II deficiency, hepatocardiomuscular; CPT2 deficiency, infantile; CPT II deficiency, hepatic;

Details

Origin ID

C563462;

UMLS CUI

C1833511;

Automatic exact mappings (from CISMeF team)
- carnitine palmitoyltransferase II deficiency [DO Concept]
Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, infantile [OMIM Phenotype]
- Carnitine palmitoyltransferase II deficiency, severe infantile form [ICD-11 More detail]
MeSH term(s) associated for indexing
- carnitine O-Palmitoyltransferase [MeSH Descriptor]
- hypoglycemia [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
- liver diseases [MeSH Descriptor]
Record concept(s)
- carnitine palmitoyltransferase II deficiency, infantile [MeSH concept]
See also inter- (CISMeF)
- Severe infantile form of carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine palmitoyl transferase II deficiency, severe infantile form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, infantile [OMIM Phenotype]
- Carnitine palmitoyltransferase II deficiency, severe infantile form [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

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