carnitine palmitoyltransferase II deficiency, Late-Onset

Preferred Label : carnitine palmitoyltransferase II deficiency, Late-Onset;

MeSH note : PROM mutation in carnitine palmitoyltransferase II;

MeSH synonym : CPT II deficiency, myopathic; carnitine palmitoyltransferase II deficiency, Adult-Onset; carnitine palmitoyltransferase II deficiency, myopathic; CPT2 deficiency, Late-Onset;

Details

Origin ID

C563461;

UMLS CUI

C1833508;

Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase II deficiency, myopathic form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, myopathic form [ICD-11 More detail]
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [OMIM Phenotype]
False automatic mappings
- Phlebitis of leg superficial [MedDRA LLT]
MeSH term(s) associated for indexing
- carnitine O-Palmitoyltransferase [MeSH Descriptor]
- lipid metabolism, inborn errors [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine palmitoyl transferase II deficiency, myopathic form [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency, myopathic form [ICD-11 More detail]
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [OMIM Phenotype]
Validated automatic mappings to NTBT
- 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 2 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase II deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

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