Preferred Label : Transient tyrosine oxidase deficiency;
ICD-11 definition : Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected
upon newborn screening and often observed in premature infants. It shows no clinical
symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and
tyrosiluria that usually resolve after 2 months of age.;
ICD-11 synonym : Transient tyrosinaemia of the newborn; Transient neonatal tyrosinaemia; Tyrosine oxidase temporary deficiency;
Origin ID : 1085704398;
UMLS CUI : C0268485;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected
upon newborn screening and often observed in premature infants. It shows no clinical
symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and
tyrosiluria that usually resolve after 2 months of age.
