Carnitine transporter deficiency

Preferred Label : Carnitine transporter deficiency;

ICD-11 definition : Carnitine uptake deficiency is a fatty acid disorder due to defective carnitine transporters, resulting in progressive hypokinetic dilated cardiomyopathy that is generally associated with muscular weakness. This last sign may be major and result in proximal myopathy and amyotrophy. Hypoglycemia- and hypoketosis-linked coma or acute hepatic injuries such as Reye's syndrome may occur after periods of fasting or infections.;

ICD-11 synonym : Carnitine uptake deficiency; Carnitine brain transporter deficiency; Primary carnitine deficiency;

Details

Origin ID

526376450;

UMLS CUI

C0342788;

Currated CISMeF NLP mapping
- Carnitine deficiency, systemic primary [OMIM Phenotype]
- Carnitine uptake deficiency [LOINC component]
- Primary Carnitine Deficiency [NCIt concept]
- Primary carnitine deficiency [ICD-9 code]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- Systemic primary carnitine deficiency [ORDO Disease]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]
See also inter- (CISMeF)
- renal carnitine transport defect [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine deficiency, systemic primary [OMIM Phenotype]
- Carnitine uptake deficiency [LOINC component]
- Primary Carnitine Deficiency [NCIt concept]
- Primary carnitine deficiency [ICD-9 code]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- Systemic primary carnitine deficiency [ORDO Disease]
- Systemic primary carnitine deficiency [MedDRA LLT]
- renal carnitine transport defect [SNOMED Notion]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]

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