Pyridoxal phosphate-responsive seizures - CISMeF

" /> Pyridoxal phosphate-responsive seizures - CISMeF

CISMeF

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Pyridoxal phosphate-responsive seizuresICD-11 More detail

Preferred Label : Pyridoxal phosphate-responsive seizures;

ICD-11 synonym : PNPO deficiency; Pyridoxamine 5-oxidase deficiency; Neonatal PNPO-related epileptic encephalopathy;

Details

Origin ID

604024463;

Currated CISMeF NLP mapping
- Pyridoxal 5-phosphate dependent epilepsy (disorder) [SNOMED CT concept]
- Pyridoxal phosphate-responsive seizures [ORDO Disease]
- Pyridoxamine 5-prime-phosphate oxidase deficiency [OMIM Phenotype]
- pyridoxamine 5'-phosphate oxidase deficiency [DO Concept]
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH Supplementary Concept]
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH concept]

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06/05/2025

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