pyridoxamine 5-Prime-Phosphate oxidase deficiency

Preferred Label : pyridoxamine 5-Prime-Phosphate oxidase deficiency;

MeSH synonym : seizures, Pyridoxine-Resistant, PLP-Sensitive; epileptic encephalopathy, neonatal, PNPO-Related; PNPO deficiency; PNPO-Related neonatal epileptic encephalopathy; pyridoxal 5'-Phosphate-Dependent epilepsy; Pyridoxine-5'-Phosphate oxidase deficiency;

Details

Origin ID

C566449;

UMLS CUI

C1864723;

Currated CISMeF NLP mapping
- Pyridoxal 5-phosphate dependent epilepsy (disorder) [SNOMED CT concept]
- Pyridoxal phosphate-responsive seizures [ICD-11 More detail]
- Pyridoxal phosphate-responsive seizures [ORDO Disease]
- Pyridoxamine 5-prime-phosphate oxidase deficiency [OMIM Phenotype]
- pyridoxamine 5'-phosphate oxidase deficiency [DO Concept]
DO Cross reference
- pyridoxamine 5'-phosphate oxidase deficiency [DO Concept]
MeSH term(s) associated for indexing
- brain diseases, metabolic [MeSH Descriptor]
- hypoxia-ischemia, brain [MeSH Descriptor]
- pyridoxaminephosphate oxidase [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- pyridoxamine 5-Prime-Phosphate oxidase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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]

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