hypomyelination, global cerebral

Preferred Label : hypomyelination, global cerebral;

MeSH synonym : Aspartate-Glutamate carrier 1 deficiency; AGC1 deficiency;

Origin ID

C567847;

UMLS CUI

C2751855;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 39 with leukodystrophy [OMIM Phenotype]
- Epileptic encephalopathy with global cerebral demyelination [ORDO Disease]
- Epileptic encephalopathy with global cerebral demyelination (disorder) [SNOMED CT concept]
- Mitochondrial aspartate glutamate carrier 1 deficiency [ICD-11 More detail]
- developmental and epileptic encephalopathy 39 [DO Concept]
MeSH term(s) associated for indexing
- amino acid transport systems, acidic [MeSH Descriptor]
- antiporters [MeSH Descriptor]
- hereditary central nervous system demyelinating diseases [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
- psychomotor disorders [MeSH Descriptor]
Record concept(s)
- 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]
- Mitochondrial aspartate glutamate carrier 1 deficiency [ICD-11 More detail]