Carnitine Palmitoyltransferase I Deficiency

Preferred Label : Carnitine Palmitoyltransferase I Deficiency;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma.;

Details

Origin ID

C98871;

UMLS CUI

C1829703;

Currated CISMeF NLP mapping
- 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 [ICD-11 More detail]
- 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 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 [ICD-11 More detail]
- 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]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CPT1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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