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Neonatal glycine encephalopathy

^ http://www.orpha.net/ORDO/Orphanet_289857


Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

Synonyms: Classic glycine encephalopathy, Neonatal NKH, Neonatal non-ketotic hyperglycinemia

Term info

database cross reference
  • UMLS:C0751748 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E72.5 (NTBT (narrower term maps to a broader term))
  • ICD-10:E72.5 (Attributed)
  • OMIM:605899 (NTBT (narrower term maps to a broader term))
hasDbXref

OMIM:605899, UMLS:C0751748, ICD-10:E72.5

notation

ORPHA:289857