Mitochondrial aspartate glutamate carrier 1 deficiency

Preferred Label : Mitochondrial aspartate glutamate carrier 1 deficiency;

ICD-11 definition : This is a deficiency predominantly expressed in the plasma membrane, allowing it to remove glutamate from the extracellular space. It has also been localized in the inner mitochondrial membrane as part of the malate-aspartate shuttle.;

Details

Origin ID

1277104703;

UMLS CUI

C2751855;

CISMeF manual mappings
- Epileptic encephalopathy with global cerebral demyelination [ORDO Disease]
Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 39 with leukodystrophy [OMIM Phenotype]
- Epileptic encephalopathy with global cerebral demyelination (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 39 [DO Concept]
- hypomyelination, global cerebral [MeSH Supplementary Concept]
- hypomyelination, global cerebral [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and epileptic encephalopathy 39 with leukodystrophy [OMIM Phenotype]
- Epileptic encephalopathy with global cerebral demyelination [ORDO Disease]
- hypomyelination, global cerebral [MeSH concept]
- hypomyelination, global cerebral [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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