Preferred Label : Alport syndrome;
ICD-11 definition : Alport syndrome is an inherited disease characterised by glomerular nephropathy with
hematuria, progressing to end-stage renal disease, associated with sensorineural deafness
and eye affection such as lenticonus or retinopathia. It involves a structural defect
of type IV collagen, which is a normal component of the glomeral basal membrane.;
Origin ID : 1170919425;
Currated CISMeF NLP mapping
Alport syndrome is an inherited disease characterised by glomerular nephropathy with
hematuria, progressing to end-stage renal disease, associated with sensorineural deafness
and eye affection such as lenticonus or retinopathia. It involves a structural defect
of type IV collagen, which is a normal component of the glomeral basal membrane.
