Preferred Label : Iminoglycinuria;
ICD-11 definition : Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption
of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in
15 000. The disorder is usually asymptomatic and is identified fortuitously by detection
of increased levels of the imino acids and glycine in the urine. It is transmitted
as an autosomal recessive trait.;
Origin ID : 664428532;
UMLS CUI : C0268654;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption
of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in
15 000. The disorder is usually asymptomatic and is identified fortuitously by detection
of increased levels of the imino acids and glycine in the urine. It is transmitted
as an autosomal recessive trait.
