Systemic carnitine deficiency

Preferred Label : Systemic carnitine deficiency;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0531239;

UMLS CUI

C0342788;

Currated CISMeF NLP mapping
- 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 primary carnitine deficiency [ORDO Disease]
- renal carnitine transport defect [SNOMED Notion]
- systemic primary carnitine deficiency disease [DO Concept]
Related record
- systemic carnitine deficiency [MeSH Supplementary Concept]
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 primary carnitine deficiency [ORDO Disease]
- Systemic primary carnitine deficiency [MedDRA LLT]
- renal carnitine transport defect [SNOMED Notion]
- systemic primary carnitine deficiency disease [DO Concept]