renal carnitine transport defect - CISMeF

" /> renal carnitine transport defect - CISMeF

CISMeF

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Renal carnitine transport defectSNOMED Notion

Preferred Label : renal carnitine transport defect;

Details

Origin ID

D6-B7310;

UMLS CUI

C0342788;

Currated CISMeF NLP mapping
- Primary Carnitine Deficiency [NCIt concept]
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
- Systemic carnitine deficiency [MeSH concept]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]
ICD-10 exact mapping(s)
- Disorders of fatty-acid metabolism [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
SNOMED CT concept
- Renal carnitine transport defect (disorder) [SNOMED CT concept]
See also inter- (CISMeF)
- Carnitine transporter deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Carnitine deficiency, systemic primary [OMIM Phenotype]
- Carnitine transporter deficiency [ICD-11 More detail]
- 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]
- systemic carnitine deficiency [MeSH Supplementary Concept]
- systemic primary carnitine deficiency disease [DO Concept]

Keyword's position in hierarchy(ies) :

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03/05/2025

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