Preferred Label : Blue diaper syndrome;
ICD-11 definition : Blue diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia
with nephrocalcinosis and indicanuria. The prevalence is unknown. Affected infants
present with digestive problems, fever and periodic irritability. Visual disturbances
have also been reported. The disease is associated with a defect in intestinal tryptophan
absorption that leads to a bluish discoloration of the urine when it comes into contact
with the air. Transmission may be autosomal recessive or X-linked. The defect in tryptophan
absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two
amino acid transporters.;
ICD-11 synonym : Familial hypercalcaemia - nephrocalcinosis - indicanuria; Drummond syndrome;
Origin ID : 292681007;
UMLS CUI : C0268478;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Blue diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia
with nephrocalcinosis and indicanuria. The prevalence is unknown. Affected infants
present with digestive problems, fever and periodic irritability. Visual disturbances
have also been reported. The disease is associated with a defect in intestinal tryptophan
absorption that leads to a bluish discoloration of the urine when it comes into contact
with the air. Transmission may be autosomal recessive or X-linked. The defect in tryptophan
absorption may be associated with mutations in the LAT2 and TAT1 genes, encoding two
amino acid transporters.
