carnitine palmitoyl transferase 1A deficiency

Preferred Label : carnitine palmitoyl transferase 1A deficiency;

CISMeF acronym : CPT1AD;

MeSH synonym : carnitine palmitoyltransferase 1 deficiency; hepatic carnitine palmitoyltransferase 1 deficiency; CPT I deficiency; liver form of carnitine palmitoyltransferase deficiency; carnitine palmitoyltransferase IA deficiency; carnitine palmitoyltransferase I deficiency; CPT deficiency, hepatic, type I; CPT 1A deficiency;

Is substance : O;

Details

Origin ID

C535588;

UMLS CUI

C1829703;

CISMeF manual mappings
- Carnitine palmitoyl transferase 1A deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Carnitine Palmitoyltransferase I Deficiency [NCIt concept]
- Carnitine palmitoyltransferase 1 deficiency [LOINC component]
- Carnitine palmitoyltransferase I deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase I deficiency [OMIM Phenotype]
- Carnitine palmitoyltransferase I deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyltransferase 1 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase I deficiency [DO Concept]
MeSH term(s) associated for indexing
- carnitine O-Palmitoyltransferase [MeSH Descriptor]
- hypoglycemia [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Carnitine palmitoyl transferase 1A deficiency [MeSH 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 [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 palmitoyltransferase 1 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase I deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients