systemic carnitine deficiency

Preferred Label : systemic carnitine deficiency;

MeSH synonym : carnitine uptake defect; carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; carnitine transporter, plasma-membrane, deficiency of; carnitine deficiency, primary; carnitine deficiency, systemic primary; renal carnitine transport defect; primary carnitine deficiency; carnitine transporter deficiency; carnitine uptake deficiency;

Details

Origin ID

C536778;

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]
DO Cross reference
- systemic primary carnitine deficiency disease [DO Concept]
Manual NTBT mappings (CISMeF)
- carnitine deficiency [Indication]
MeSH term(s) associated for indexing
- cardiomyopathies [MeSH Descriptor]
- carnitine [MeSH Descriptor]
- hyperammonemia [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- Systemic carnitine deficiency [MeSH 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]

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