Carnitine-Acylcarnitine Translocase Deficiency

Preferred Label : Carnitine-Acylcarnitine Translocase Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SLC25A20 gene, encoding mitochondrial carnitine/acylcarnitine carrier protein. It is characterized by cardiomyopathy, skeletal muscle damage, and liver dysfunction that results from derangement of long-chain fatty acid oxidation.;

Details

Origin ID

C133086;

UMLS CUI

C0342791;

Automatic exact mappings (from CISMeF team)
- Carnitine-acylcarnitine translocase deficiency [MedDRA Preferred Term]
- carnitine-acylcarnitine translocase deficiency [DO Concept]
- carnitine-acylcarnitine translocase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- CACT deficiency [Disease (Nov.)]
- Carnitine acylcarnitine translocase deficiency (disorder) [SNOMED CT concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH Supplementary Concept]
- Carnitine-acylcarnitine translocase deficiency [OMIM Phenotype]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
- Carnitine-acylcarnitine translocase deficiency [ICD-11 More detail]
DO Cross reference
- carnitine-acylcarnitine translocase deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CACT deficiency [Disease (Nov.)]
- Carnitine acylcarnitine translocase deficiency (disorder) [SNOMED CT concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH Supplementary Concept]
- Carnitine-Acylcarnitine translocase deficiency [MeSH concept]
- Carnitine-acylcarnitine translocase deficiency [ORDO Disease]
- Carnitine-acylcarnitine translocase deficiency [OMIM Phenotype]
- Carnitine-acylcarnitine translocase deficiency [ICD-11 More detail]
- Carnitine-acylcarnitine translocase deficiency [MedDRA Preferred Term]
- carnitine-acylcarnitine translocase deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC25A20 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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