Preferred Label : Hypertryptophanaemia;
ICD-11 definition : Familial hypertryptophanemia is characterized by intellectual deficit associated with
behavioral problems: periodic mood swings, exaggerated affective responses and abnormal
sexual behavior. Twelve cases have been reported so far. Congenital abnormalities
in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.;
ICD-11 synonym : Tryptophanuria;
Origin ID : 1215141359;
UMLS CUI : C0268472;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Familial hypertryptophanemia is characterized by intellectual deficit associated with
behavioral problems: periodic mood swings, exaggerated affective responses and abnormal
sexual behavior. Twelve cases have been reported so far. Congenital abnormalities
in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.
