carnitine palmitoyl transferase 2 deficiency

Preferred Label : carnitine palmitoyl transferase 2 deficiency;

MeSH synonym : muscle form of carnitine palmitoyltransferase deficiency; carnitine palmitoyltransferase deficiency type 2; carnitine palmitoyltransferase ii deficiency; cpt ii deficiency; Cpt2 deficiency; carnitine palmitoyltransferase 2 deficiency;

Details

Origin ID

C535589;

UMLS CUI

C0342790;

Automatic exact mappings (from CISMeF team)
- Carnitine O-palmitoyltransferase deficiency [PASCAL descriptor]
- Carnitine palmitoyltransferase I deficiency [OMIM Phenotype]
- Carnitine palmitoyltransferase deficiency [MedDRA Preferred Term]
- Carnitine palmitoyltransferase deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyltransferase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Carnitine Palmitoyltransferase II Deficiency [NCIt concept]
- Carnitine palmitoyltransferase II deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [OMIM Phenotype]
- carnitine palmitoyltransferase 2 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase II deficiency [DO Concept]
DO Cross reference
- carnitine palmitoyltransferase II deficiency [DO Concept]
MeSH term(s) associated for indexing
- carnitine O-Palmitoyltransferase [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
ORDO relation(s)
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
Record concept(s)
- Carnitine palmitoyl transferase 2 deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine Palmitoyltransferase II Deficiency [NCIt concept]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyltransferase 2 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase II deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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