erythrocyte lactate transporter defect

Preferred Label : erythrocyte lactate transporter defect;

MeSH note : mutation in SLC16A1;

MeSH synonym : lactate transporter defect, myopathy due to;

Details

Origin ID

C565449;

UMLS CUI

C1855577;

Currated CISMeF NLP mapping
- Erythrocyte lactate transporter defect [OMIM Phenotype]
- Metabolic myopathy due to lactate transporter defect [ORDO Disease]
- Metabolic myopathy due to lactate transporter defect (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- monocarboxylic acid transporters [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- erythrocyte lactate transporter defect [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythrocyte lactate transporter defect [OMIM Phenotype]
- Metabolic myopathy due to lactate transporter defect [ORDO Disease]
- Metabolic myopathy due to lactate transporter defect (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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