Preferred Label : Alport syndrome, X-linked diffuse leiomyomatosis;
ICD-11 definition : X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked
Alport syndrome with leiomyomatosis of the œsophagus, tracheobronchial tree or female
genitals. Alport syndrome is defined by glomerular nephropathy with hematuria, progressing
to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis
is characterized by benign smooth muscle cell proliferation. Œsophagus lesions, evidenced
by radiographic examinations, are responsible for dysphagia and retrosternal pain.
Tracheobronchial lesions lead to dyspnea and complications during anaesthesias. Affected
females typically show clitoral and vulvar hypertrophy. This is a contiguous gene
syndrome by 5' terminal deletion of both COL4A5 and COL4A6.;
Origin ID : 119811769;
Currated CISMeF NLP mapping
X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked
Alport syndrome with leiomyomatosis of the œsophagus, tracheobronchial tree or female
genitals. Alport syndrome is defined by glomerular nephropathy with hematuria, progressing
to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis
is characterized by benign smooth muscle cell proliferation. Œsophagus lesions, evidenced
by radiographic examinations, are responsible for dysphagia and retrosternal pain.
Tracheobronchial lesions lead to dyspnea and complications during anaesthesias. Affected
females typically show clitoral and vulvar hypertrophy. This is a contiguous gene
syndrome by 5' terminal deletion of both COL4A5 and COL4A6.
