[genetically determined disorders of the reabsorptive functions of the kidney with regard to specific nephron segments responsible for specific transport functions, classifiable by proximal nephron function, loop of Henle function, and distal nephron function; transport defects can be selective or nonselective. ( CSP )]
UMLS (CSP) C0035091 Relation/PAR: Kidney Disease
Congenital Metabolic Disorder
inborn biological transport disorder
Relation/CHD: Acidosis, Renal Tubular
Aminoaciduria, Renal
cystine storage disease
cystinuria
cerebrooculorenal syndrome
Acidosis, Renal Tubular
Aminoaciduria, Renal
cystine storage disease
DIABETES RENALA
Hypophosphatemia, Familial
cerebrooculorenal syndrome
Pseudohypoaldosteronism