pyridoxine-dependent epilepsy

Preferred Label : pyridoxine-dependent epilepsy;

MeSH synonym : pyridoxine dependency with seizures; pyridoxine dependency; aasa dehydrogenase deficiency; epilepsy, Pyridoxine-Dependent; vitamin B6-Dependent seizures; Pyridoxine-Dependent seizures;

Details

Origin ID

C536254;

UMLS CUI

C1849508;

Automatic exact mappings (from CISMeF team)
- Pyridoxine dependent epilepsy with antiquitin mutations [ICD-11 More detail]
- pyridoxine-dependent epilepsy [DO Concept]
Currated CISMeF NLP mapping
- Epilepsy, early-onset, 4, vitamin b6-dependent [OMIM Phenotype]
- Pyridoxine-dependent epilepsy [ORDO Disease]
- Pyridoxine-dependent epilepsy (disorder) [SNOMED CT concept]
DO Cross reference
- pyridoxine-dependent epilepsy [DO Concept]
MeSH term(s) associated for indexing
- epilepsy [MeSH Descriptor]
ORDO relation(s)
- Pyridoxine-dependent epilepsy [ORDO Disease]
Record concept(s)
- Pyridoxine-dependent epilepsy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epilepsy, early-onset, 4, vitamin b6-dependent [OMIM Phenotype]
- Pyridoxine-dependent epilepsy [ORDO Disease]
- Pyridoxine-dependent epilepsy (disorder) [SNOMED CT concept]

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