Carnitine palmitoyltransferase I deficiency

Preferred Label : Carnitine palmitoyltransferase I deficiency;

ICD-11 definition : Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.;

ICD-11 synonym : CPT1 - [Carnitine palmitoyltransferase I] deficiency; CPT1 deficiency; Liver form of carnitine palmitoyltransferase deficiency;

Details

Origin ID

500237301;

UMLS CUI

C1829703;

Automatic exact mappings (from CISMeF team)
- CPT1 deficiency [LOINC component]
Currated CISMeF NLP mapping
- Carnitine Palmitoyltransferase I Deficiency [NCIt concept]
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
- Carnitine palmitoyl transferase 1A deficiency [MeSH concept]
- Carnitine palmitoyltransferase 1 deficiency [LOINC component]
- Carnitine palmitoyltransferase I deficiency [OMIM Phenotype]
- Carnitine palmitoyltransferase I deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyl transferase 1A deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase 1 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase I deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine Palmitoyltransferase I Deficiency [NCIt concept]
- Carnitine palmitoyl transferase 1A deficiency [MeSH concept]
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
- Carnitine palmitoyltransferase 1 deficiency [LOINC component]
- Carnitine palmitoyltransferase I deficiency [OMIM Phenotype]
- Carnitine palmitoyltransferase I deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyl transferase 1A deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase 1 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase I deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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