Preferred Label : Dihydropteridine reductase deficiency;
ICD-11 definition : Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder,
is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine
deficiency, andis also responsible for defective neurotransmission of monoamines.
When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor
retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia,
hypersalivation, and difficult swallowing.;
ICD-11 synonym : DHPR - [Dihydropteridine reductase] deficiency; DHPR deficiency;
Origin ID : 1931239861;
UMLS CUI : C0268465;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT
Dihydropteridine reductase (DHPR) deficiency, an autosomal recessive genetic disorder,
is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterine
deficiency, andis also responsible for defective neurotransmission of monoamines.
When left untreated, DHPR deficiency leads to neurological signs that include: psychomotor
retardation, tonicity disorders, drowsiness, irritability, abnormal movements, hyperthermia,
hypersalivation, and difficult swallowing.