Carnitine Palmitoyltransferase II Deficiency

Preferred Label : Carnitine Palmitoyltransferase II Deficiency;

NCIt synonyms : CPT II Deficiency;

NCIt definition : A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.;

Détails

Origin ID

C114766;

UMLS CUI

C0342790;

Currated CISMeF NLP mapping
- Carnitine palmitoyl transferase 2 deficiency [MeSH concept]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyl transferase 2 deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase 2 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase II deficiency [DO Concept]
DO Cross reference
- carnitine palmitoyltransferase II deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine palmitoyl transferase 2 deficiency [MeSH concept]
- Carnitine palmitoyltransferase II deficiency [ORDO Disease]
- Carnitine palmitoyltransferase II deficiency [ICD-11 More detail]
- Carnitine palmitoyltransferase II deficiency (disorder) [SNOMED CT concept]
- carnitine palmitoyl transferase 2 deficiency [MeSH Supplementary Concept]
- carnitine palmitoyltransferase 2 deficiency [Disease (Nov.)]
- carnitine palmitoyltransferase II deficiency [DO Concept]
Validated automatic mappings to BTNT
- Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced [OMIM Phenotype]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH concept]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CPT2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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