carnitine palmitoyltransferase II deficiency, lethal neonatal

Preferred Label : carnitine palmitoyltransferase II deficiency, lethal neonatal;

MeSH note : mutation in CPT2;

MeSH synonym : carnitine palmitoyltransferase II deficiency, antenatal; carnitine palmitoyltransferase II deficiency, neonatal; CPT II deficiency, lethal neonatal; CPT2 deficiency, lethal neonatal;

Details

Origin ID

C563463;

UMLS CUI

C1833518;

CISMeF manual mappings
- Carnitine palmitoyltransferase II deficiency, neonatal form [ICD-11 More detail]
Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase II deficiency, neonatal form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, lethal neonatal [OMIM Phenotype]
MeSH term(s) associated for indexing
- carnitine O-Palmitoyltransferase [MeSH Descriptor]
- infant, newborn, diseases [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
Record concept(s)
- carnitine palmitoyltransferase II deficiency, lethal neonatal [MeSH concept]
See also inter- (CISMeF)
- Neonatal 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, neonatal form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, lethal neonatal [OMIM Phenotype]
- Carnitine palmitoyltransferase II deficiency, neonatal form [ICD-11 More detail]
Validated automatic mappings to NTBT
- carnitine palmitoyltransferase II deficiency [DO Concept]

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