NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of Second Parent Second Parent NCIt Code of Subset PT of NICHD Subset Subset Antiquated PT Subset Antiquated SY C123164 A1 Hydronephrosis A1 Hydronephrosis Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of 4 to less than 7 mm at less than 28 weeks, 2) to less than10 mm at greater than or equal to 28 weeks, and 3) may have central calyceal dilation. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of 4 to less than 7 mm at less than 28 weeks, 2) to less than10 mm at greater than or equal to 28 weeks, and 3) may have central calyceal dilation. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C123155 Antenatal Hydronephrosis C123272 Pediatric Nephrology Terminology C123165 A2/3 Hydronephrosis A2/3 Hydronephrosis Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of greater than or equal to 7mm at less than 28 weeks, 2) greater than or equal to10 mm at greater than or equal to 28 weeks, or 3) any one of the following findings: a)dilation of peripheral calyces, b) abnormal parenchymal thickness or appearance, c) visibly dilated ureter, d) an abnormal bladder, or e) the presence of oligohydramnios suspected to be related to the urinary tract. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of greater than or equal to 7mm at less than 28 weeks, 2) greater than or equal to10 mm at greater than or equal to 28 weeks, or 3) any one of the following findings: a)dilation of peripheral calyces, b) abnormal parenchymal thickness or appearance, c) visibly dilated ureter, d) an abnormal bladder, or e) the presence of oligohydramnios suspected to be related to the urinary tract. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C123155 Antenatal Hydronephrosis C123272 Pediatric Nephrology Terminology C123204 Acquired Neurogenic Bladder Acquired Neurogenic Bladder Neurogenic bladder, the cause of which is not present at birth. Neurogenic bladder, the cause of which is not present at birth. C79696 Neurogenic Bladder C123272 Pediatric Nephrology Terminology C128147 Acquired Solitary Kidney Acquired Solitary Kidney A finding of one kidney after the loss of the second, whether due to injury, disease or surgery. A finding of one kidney after the loss of the second, whether due to injury, disease or surgery. C36287 Congenital or Acquired Anatomic Abnormality C123272 Pediatric Nephrology Terminology C123241 Acquired Urinary Tract Obstruction Acquired Urinary Tract Obstruction A urinary tract obstruction, the cause of which is not present at birth. A urinary tract obstruction, the cause of which is not present at birth. C79805 Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C123163 Acute Cortical Necrosis Acute Cortical Necrosis Acute kidney injury caused by ischemic necrosis of the renal cortex. Acute kidney injury caused by ischemic necrosis of the renal cortex. C26808 Acute Kidney Injury C123272 Pediatric Nephrology Terminology C35213 Acute Glomerulonephritis Acute Glomerulonephritis An acute inflammation of the glomeruli, generally secondary to infection or injury. A condition characterized by the sudden onset of hematuria, proteinuria, and red blood cell casts, and may be accompanied by a reduction in the glomerular filtration rate. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123215 Acute Pyelonephritis Acute Pyelonephritis Sudden onset pyelonephritis. Sudden onset pyelonephritis. C34965 Pyelonephritis C123272 Pediatric Nephrology Terminology C26808 Acute Renal Failure Acute Kidney Injury Acute Renal Failure Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. Deterioration of renal function, occurring within a time frame of hours to weeks, that results in failure to maintain normal fluid, electrolyte, waste products, and/or acid-base balance. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C34749 Acute Tubular Necrosis Acute Tubular Necrosis Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. Damage to the renal tubular epithelial cells resulting in acute kidney injury. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123024 Acute Uric Acid Nephropathy Acute Uric Acid Nephropathy Kidney damage resulting from uric acid precipitation within the renal tubules. Kidney damage resulting from uric acid precipitation within the renal tubules. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C34842 Alport Syndrome Alport Syndrome A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123155 Antenatal Hydronephrosis Antenatal Hydronephrosis Prenatal Hydronephrosis Hydronephrosis that occurs in a fetus. Hydronephrosis that occurs in a fetus. C26796 Hydronephrosis C123272 Pediatric Nephrology Terminology C35798 Anti-Basement Membrane Glomerulonephritis Anti-Glomerular Basement Membrane Antibody Disease Anti-GBM Antibody Disease Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. Glomerulonephritis characterized by antibodies to the glomerular basement membrane, specifically antibodies to alpha-3 subunit of Type IV collagen. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123125 Antimicrobial - Induced Nephropathy Antimicrobial - Induced Nephropathy Kidney damage resulting from exposure to antimicrobials. Kidney damage resulting from exposure to antimicrobials. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123025 Aristolochic Acid Nephropathy Aristolochic Acid Nephropathy Chinese Herb Endemic Nephropathy|Endemic Nephropathy|Balkan Endemic Nephropathy Chronic tubulointerstitial disease resulting from aristolochic acid. Chronic tubulointerstitial disease resulting from aristolochic acid. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123257 Ascending Testicle Ascending Testicle A condition in which a previously descended testicle permanently moves out of the scrotum. A condition in which a previously descended testicle permanently moves out of the scrotum. C26890 Testicular Disorder C123272 Pediatric Nephrology Terminology C123223 Atypical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome Non-diarrhea-associated Hemolytic Uremic Syndrome Hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria. Hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria. C75545 Hemolytic Uremic Syndrome C123272 Pediatric Nephrology Terminology C123186 Autosomal Dominant Hypophosphatemia Rickets Autosomal Dominant Hypophosphatemic Rickets Autosomal Dominant Vitamin D-resistant Rickets An autosomal dominant renal phosphate wasting disorder that results in rickets. Hypophosphatemic rickets due to heterozygous mutation(s) in the FGF23 gene, encoding fibroblast growth factor 23, a protein involved in phosphate homeostasis. The altered protein is resistant to cleavage, resulting in elevated FGF23 concentrations; the condition is characterized by isolated renal phosphate wasting, resulting in hypophosphatemia, accompanied by inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) concentrations. C37977 Hypophosphatemia C123272 Pediatric Nephrology Terminology C84578 Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Polycystic Kidney Disease Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts. Polycystic kidney disease inherited in an autosomal dominant pattern. C75464 Polycystic Kidney Disease C123272 Pediatric Nephrology Terminology C123166 Autosomal Dominant Polycystic Kidney Disease Type 2 Autosomal Dominant Polycystic Kidney Disease Type 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. C84578 Autosomal Dominant Polycystic Kidney Disease C123272 Pediatric Nephrology Terminology C123167 Autosomal Dominant Polycystic Kidney Disease Type I Autosomal Dominant Polycystic Kidney Disease Type I Autosomal dominant polycystic kidney disease caused by a mutation in PKD1. Autosomal dominant polycystic kidney disease caused by a mutation in PKD1. C84578 Autosomal Dominant Polycystic Kidney Disease C123272 Pediatric Nephrology Terminology C123187 Autosomal Recessive Hypophosphatemia Rickets Autosomal Recessive Hypophosphatemic Rickets An autosomal recessive renal phosphate wasting disorder that results in rickets. Hypophosphatemic rickets due to inactivating mutation(s) in the DMP1 gene, encoding dentin matrix acidic phosphoprotein 1, or in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) levels. C37977 Hypophosphatemia C123272 Pediatric Nephrology Terminology C84579 Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. C3101 Genetic Disorder C75464 Polycystic Kidney Disease C123272 Pediatric Nephrology Terminology C118632 Bardet-Biedl Syndrome Bardet-Biedl Syndrome Laurence-Moon Syndrome|Laurence-Moon-Biedl Syndrome|Laurence-Moon-Bardet-Biedl Syndrome An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia. C28193 Syndrome C123272 Pediatric Nephrology Terminology C34412 Bartter Syndrome Bartter Syndrome A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension. A rare, inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Affected individuals have high concentration of plasma renin that is not associated with hypertension. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123126 Bisphosphonate - Induced Nephropathy Bisphosphonate - Induced Nephropathy Kidney damage resulting from exposure to bisphosphonates. Kidney damage resulting from exposure to bisphosphonates. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123207 Bladder Exstrophy Bladder Exstrophy Ectopia Vesicae A congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy- epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters. A congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy- epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters. C2900 Bladder Disorder C123272 Pediatric Nephrology Terminology C79541 Bladder Obstruction Bladder Outlet Obstruction Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. An impediment of urine flow at the outlet of the bladder. C2900 Bladder Disorder C123272 Pediatric Nephrology Terminology C123208 Bladder Sphincter Dysfunction Bladder Sphincter Dysfunction Detrusor Sphincter Dysynergia Non-coordinated, reflexive contraction of the bladder and sphincter relaxation. Non-coordinated, reflexive contraction of the bladder and sphincter relaxation. C2900 Bladder Disorder C123272 Pediatric Nephrology Terminology C123043 C3 Glomerulonephritis C3 Glomerulonephritis Complement-Mediated Membranoproliferative Glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123127 Calcineurin Inhibitor - Induced Nephropathy Calcineurin Inhibitor - Induced Nephropathy Kidney damage resulting from exposure to calcineurin inhibitors. Kidney damage resulting from exposure to calcineurin inhibitors. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123242 Calcium Oxalate Urolithiasis Calcium Oxalate Urolithiasis Urolithiasis in which the composition of the stones is predominantly calcium oxalate. Urolithiasis in which the composition of the stones is predominantly calcium oxalate. C114688 Urolithiasis C123272 Pediatric Nephrology Terminology C123243 Calcium Phosphate Urolithiasis Calcium Phosphate Urolithiasis Urolithiasis in which the composition of the stones is predominantly calcium phosphate. Urolithiasis in which the composition of the stones is predominantly calcium phosphate. C114688 Urolithiasis C123272 Pediatric Nephrology Terminology C123194 Calyceal Diverticulum Calyceal Diverticulum An out-pouching of the calyx into the renal parenchyma. An out-pouching of the calyx into the renal parenchyma. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123225 Cardiorenal Syndrome Cardiorenal Syndrome A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123235 Cecoureterocele Cecoureterocele A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra. A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra. C123159 Ureterocele C123272 Pediatric Nephrology Terminology C123128 Chemotherapeutic Drug - Induced Nephropathy Chemotherapeutic Drug - Induced Nephropathy Kidney damage resulting from exposure to chemotherapeutic drugs. Kidney damage resulting from exposure to chemotherapeutic drugs. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C80078 Chronic Kidney Disease Chronic Kidney Disease Chronic Renal Failure|Chronic Renal Insufficiency Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123216 Chronic Pyelonephritis Chronic Pyelonephritis Persistent pyelonephritis. Persistent pyelonephritis. C34965 Pyelonephritis C123272 Pediatric Nephrology Terminology C123013 Chronic Urate Nephropathy Chronic Urate Nephropathy Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium. Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123044 Collapsing Glomerulopathy Collapsing Glomerulopathy Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia. Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C123170 Complex Cyst of Kidney Complex Cyst of Kidney A heterogeneous and/or septated cyst located in the kidney. A heterogeneous and/or septated cyst located in the kidney. C34750 Cystic Kidney Disease C123272 Pediatric Nephrology Terminology C6569 Congenital Mesoblastic Nephroma Congenital Mesoblastic Nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. A low grade childhood congenital malignant neoplasm arising from the kidney, which is characterized by the presence of fibroblastic cells. C123907 Childhood Malignant Kidney Tumor C3262 Neoplasm C123272 Pediatric Nephrology Terminology C35337 Congenital Nephrotic Syndrome Congenital Nephrotic Syndrome A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis. Nephrotic syndrome occurring within the first three months of life. C98885 Congenital Urinary System Abnormality C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123045 Congenital Nephrotic Syndrome - Cytomegalovirus Associated Congenital Nephrotic Syndrome - Cytomegalovirus Associated Cytomegalovirus Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life. Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis Diffuse Mesangial Sclerosis Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. Nephrotic syndrome within the first 3 months of life that is initially characterized by increased mesangial matrix, with or without hypertrophy, hyperplasia of podocytes, and, eventually, glomerular sclerosis. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C121200 Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis Congenital FSGS Nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected. Nephrotic syndrome diagnosed within the first 3 months of life that is characterized by partial scarring of the glomerulus, with fewer than 50% of glomeruli affected. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123046 Congenital Nephrotic Syndrome - Infection Associated Congenital Nephrotic Syndrome - Infection Associated Infection Associated Congenital Nephrotic Syndrome Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process. Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123047 Congenital Nephrotic Syndrome - Rubivirus Associated Congenital Nephrotic Syndrome - Rubivirus Associated Rubivirus Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life. Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123048 Congenital Nephrotic Syndrome - Toxoplasma Associated Congenital Nephrotic Syndrome - Toxoplasma Associated Toxoplasma Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life. Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123049 Congenital Nephrotic Syndrome - Treponema Pallidum Associated Congenital Nephrotic Syndrome - Treponema Pallidum Associated Treponema Pallidum Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life. Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123205 Congenital Neurogenic Bladder Congenital Neurogenic Bladder Neurogenic bladder, the cause of which is present at birth. Neurogenic bladder, the cause of which is present at birth. C79696 Neurogenic Bladder C123272 Pediatric Nephrology Terminology C123026 Congenital Renal Hypoplasia Congenital Renal Hypoplasia The underdevelopment of otherwise normal renal parenchyma, characterized by decreased nephron size and possibly a decreased number of nephrons at birth. The underdevelopment of otherwise normal renal parenchyma, characterized by decreased nephron size and possibly a decreased number of nephrons at birth. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123168 Congenital Ureteropelvic Junction Obstruction Congenital Ureteropelvic Junction Obstruction Complete or partial blockage of the ureter at the point where it enters the kidney that is present at birth. Complete or partial blockage of the ureter at the point where it enters the kidney that is present at birth. C123157 Congenital Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C123169 Congenital Ureterovesical Junction Obstruction Congenital Ureterovesical Junction Obstruction Congenital Vesicoureteral Obstruction Complete or partial blockage of the ureter at the point where it enters the bladder that is present at birth. Complete or partial blockage of the ureter at the point where it enters the bladder that is present at birth. C123157 Congenital Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C123157 Congenital Urinary Tract Obstruction Congenital Urinary Tract Obstruction An impediment to the flow of urine along the urinary tract, which is present at birth. An impediment to the flow of urine along the urinary tract, which is present at birth. C79805 Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C123177 Continent Epispadias Continent Epispadias Epispadias with urinary continence. Epispadias with urinary continence. C98923 Epispadias C123272 Pediatric Nephrology Terminology C123129 Contrast - Induced Nephropathy Contrast - Induced Nephropathy Kidney damage resulting from exposure to contrast agents. Kidney damage resulting from exposure to contrast agents. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C35444 Crescentic Glomerulonephritis Crescentic Glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123050 Cryoglobulinemic Glomerulonephritis Cryoglobulinemic Glomerulonephritis Glomerulonephritis in the context of cryoglobulinemia. Glomerulonephritis in the context of cryoglobulinemia. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123179 Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions. Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C34750 Cystic Kidney Disease Cystic Kidney Disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. A congenital or acquired kidney disorder characterized by the presence of renal cysts. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123244 Cystine Urolithiasis Cystine Urolithiasis Urolithiasis in which the composition of the stones is predominantly cystine. Urolithiasis in which the composition of the stones is predominantly cystine. C114688 Urolithiasis C123272 Pediatric Nephrology Terminology C26738 Cystitis Cystitis Inflammation of the urinary bladder. Inflammation of the urinary bladder. C3430 Urinary System Disorder C123272 Pediatric Nephrology Terminology C123240 Decreased Bladder Compliance Decreased Bladder Compliance The loss of elasticity of the bladder wall with increased urine volume. The loss of elasticity of the bladder wall with increased urine volume. C36286 Urinary System Finding C123272 Pediatric Nephrology Terminology C123039 Dense Deposit Disease Dense Deposit Disease Mesangiocapillary Glomerulonephritis Type 2|Membranoproliferative Glomerulonephritis Type 2 Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits. Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits. C34644 Membranoproliferative Glomerulonephritis C123272 Pediatric Nephrology Terminology C123260 Dent Disease X-linked Recessive Hypophosphatemic Rickets Dent Disease An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure. Hypophosphatemic rickets due to mutation(s) in the X-chromosomal CLCN5 gene, encoding H(+)/Cl(-) exchange transporter 5. This condition is expressed in male individuals hemizygous for the mutation(s), and in female individuals homozygous for the mutation(s). The disorder of the proximal renal tubules is characterized by low-molecular weight proteinuria, hypercalciuria, renal phosphate wasting, nephrocalcinosis, nephrolithiasis, progressive kidney failure, and elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C84668 Denys-Drash Syndrome Denys-Drash Syndrome Nephrotic Syndrome Type 4 A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components. C28193 Syndrome C123272 Pediatric Nephrology Terminology C121209 Denys-Drash Syndrome, Incomplete Denys-Drash Syndrome, Incomplete Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor. A condition comprised by congenital nephrotic syndrome coupled with either developmental sex disorder or Wilms tumor, and which is associated with mutation(s) in the WT1 gene. C84668 Denys-Drash Syndrome C123272 Pediatric Nephrology Terminology C84417 Diabetic Nephropathy Diabetic Nephropathy Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. Nephropathy resulting from diabetes mellitus. It is usually associated with proteinuria and progressive glomerulosclerosis. C80078 Chronic Kidney Disease C123272 Pediatric Nephrology Terminology C123226 Diarrhea-associated Hemolytic Uremic Syndrome Diarrhea-associated Hemolytic Uremic Syndrome Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria. Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria. C28193 Syndrome C123272 Pediatric Nephrology Terminology C122806 Diffuse Endocapillary Glomerulonephritis Diffuse Endocapillary Glomerulonephritis Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli. Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123217 Distal Renal Tubular Acidosis Distal Renal Tubular Acidosis Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis. Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis. C28129 Renal Tubular Acidosis C123272 Pediatric Nephrology Terminology C114583 Drug-Induced Nephropathy Drug-Induced Kidney Injury Drug-Induced Renal Failure|Toxic Nephropathy Kidney damage resulting from exposure to drugs. Kidney damage resulting from exposure to drugs. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123014 Drug-Induced Tubulointerstitial Nephritis Drug-Induced Tubulointerstitial Nephritis Tubulointerstitial nephritis resulting from a drug exposure. Tubulointerstitial nephritis resulting from a drug exposure. C26834 Tubulointerstitial Nephritis C123272 Pediatric Nephrology Terminology C98917 Duplicated Ureter Duplicated Ureter Double Ureter|Duplex Collecting System A congenital abnormality characterized by the presence of two separate ureters draining a kidney. A condition in which there are two partial or complete ipsilateral ureters from a single kidney. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123227 Dysfunctional Elimination Syndrome Dysfunctional Elimination Syndrome Pelvic Elimination Syndrome Fecal constipation or impaction resulting in bowel and bladder dysfunction. Fecal constipation or impaction resulting in bowel and bladder dysfunction. C28193 Syndrome C123272 Pediatric Nephrology Terminology C2999 Dysuria Dysuria Pain or discomfort during urination. Pain or discomfort during urination. C100104 Sign or Symptom C123272 Pediatric Nephrology Terminology C123232 Ectopic Ureter Ectopic Ureter A congenital anomaly in which the ureteral orifice drains into an abnormal location. A congenital anomaly in which the ureteral orifice drains into an abnormal location. C27148 Ureter Disorder C123272 Pediatric Nephrology Terminology C123236 Ectopic Ureterocele Ectopic Ureterocele A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) C123159 Ureterocele C123272 Pediatric Nephrology Terminology C123142 Enteric Hyperoxaluria Enteric Hyperoxaluria Excessive urinary oxalate excretion resulting from increased absorption of oxalate. Excessive urinary oxalate excretion resulting from increased absorption of oxalate. C3367 Finding C123272 Pediatric Nephrology Terminology C98923 Epispadias Epispadias A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly. A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the dorsum of the penis. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C84701 Fabry Disease Fabry Disease Fabry's Disease A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. C61250 Lysosomal Storage Disorder C123272 Pediatric Nephrology Terminology C123228 Familial Atypical Hemolytic Uremic Syndrome Familial Atypical Hemolytic Uremic Syndrome Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria. Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123261 Familial Hypercalciuric Hypocalcemia Familial Hypercalciuric Hypocalcemia A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria. A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C123262 Familial Hypocalciuric Hypercalcemia Familial Hypocalciuric Hypercalcemia Familial Benign Hypercalcemia A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria. Familial hypocalciuric hypercalcemia types 1,2, and 3 are a group of autosomal dominant conditions due to loss of function mutation(s) of the CASR, GNA11, and AP2S1 genes, respectively. These genes encode the extracellular calcium-sensing receptor, the guanine nucleotide-binding protein subunit alpha-11, and the AP-2 complex subunit sigma. The condition is characterized by inappropriately low urinary calcium excretion and parathyroid hormone concentration in the presence of mild hypercalcemia. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C123263 Familial Primary Hypomagnesemia Familial Primary Hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C123180 Focal and Segmental Proliferative Glomerulonephritis Focal and Segmental Proliferative Glomerulonephritis Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern. Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C37308 Focal Segmental Glomerulosclerosis Focal Segmental Glomerulosclerosis FSGS A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123051 Focal Segmental Glomerulosclerosis Cellular Variant Focal Segmental Glomerulosclerosis Cellular Variant FSGS Cellular Variant A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123052 Focal Segmental Glomerulosclerosis Collapsing Variant Focal Segmental Glomerulosclerosis Collapsing Variant FSGS Collapsing Variant A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123053 Focal Segmental Glomerulosclerosis Perihilar Variant Focal Segmental Glomerulosclerosis Perihilar Variant FSGS Perihilar Variant A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123054 Focal Segmental Glomerulosclerosis Tip Lesion Variant Focal Segmental Glomerulosclerosis Tip Lesion Variant FSGS Tip Lesion Variant A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123139 Focal Segmental Glomerulosclerosis, Not Otherwise Specified Focal Segmental Glomerulosclerosis, Not Otherwise Specified FSGS (NOS)|FSGS|Focal Segmental Glomerulosclerosis (NOS) Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C122805 Frasier Syndrome Frasier Syndrome A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma. A Wilms tumor 1 gene syndrome caused by a mutation in an intron of the WT1 gene that removes an alternative splice site resulting in loss of one isoform of the Wilms tumor protein. This condition is characterized by focal segmental glomerulosclerosis, gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and a high risk for the development of gonadoblastoma. C28193 Syndrome C123272 Pediatric Nephrology Terminology C84730 Gitelman Syndrome Gitelman Syndrome An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123015 Glomerulocystic Disease Glomerulocystic Disease Glomerulocystic Kidney Disease A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli. A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C123040 Glomerulomegaly Glomerulomegaly Glomerular enlargement greater than the fiftieth percentile. Glomerular enlargement greater than the fiftieth percentile. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C26784 Glomerulonephritis Glomerulonephritis A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. Inflammation of the glomeruli that can extend to other parts of the kidney. C26833 Nephritis C123272 Pediatric Nephrology Terminology C120887 Glomerulopathy Glomerulopathy Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins. Disorders affecting the glomerulus, including inflammatory and non-inflammatory conditions. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C120888 Glomerulosclerosis Glomerulosclerosis A hardening of the kidney glomerulus caused by scarring of the blood vessels. Global or segmental scarring of the glomerulus. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123248 Glucocorticoid Suppressible Hyperaldosteronism Glucocorticoid Suppressible Hyperaldosteronism Excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin. Excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin. C113213 Hyperaldosteronism C123272 Pediatric Nephrology Terminology C98661 Grade I Vesicoureteral Reflux Grade I Vesicoureteral Reflux Vesicoureteric Reflux, Grade I Vesicoureteral reflux in which there is urine reflux into the ureter only. Reflux that only fills the ureter without dilatation. C84467 Vesicoureteral Reflux C123272 Pediatric Nephrology Terminology C98662 Grade II Vesicoureteral Reflux Grade II Vesicoureteral Reflux Vesicoureteric Reflux, Grade II Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces. Reflux that fills the ureter and collecting system without dilatation. C84467 Vesicoureteral Reflux C123272 Pediatric Nephrology Terminology C98663 Grade III Vesicoureteral Reflux Grade III Vesicoureteral Reflux Vesicoureteric Reflux, Grade III Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present. Reflux that fills and mildly dilates the ureter and collecting system with mild blunting of the calyces. C84467 Vesicoureteral Reflux C123272 Pediatric Nephrology Terminology C98664 Grade IV Vesicoureteral Reflux Grade IV Vesicoureteral Reflux Vesicoureteric Reflux, Grade IV Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present. Reflux that fills and grossly dilates the ureter and collecting system with blunting of the calyces. Some tortuosity of the ureter is also present. C84467 Vesicoureteral Reflux C123272 Pediatric Nephrology Terminology C98665 Grade V Vesicoureteral Reflux Grade V Vesicoureteral Reflux Vesicoureteric Reflux, Grade V Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present. Massive reflux that grossly dilates the ureter and collecting system. All of the calyces are blunted with a loss of papillary impression, and intrarenal reflux may be present. There is significant ureteral dilation and tortuosity. C84467 Vesicoureteral Reflux C123272 Pediatric Nephrology Terminology C123027 Hantavirus Nephropathy Hantavirus Nephropathy Tubulointerstitial hemorrhage resulting from hantavirus infection. Tubulointerstitial hemorrhage resulting from hantavirus infection. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123028 Heavy-Metal-Induced Nephropathy Heavy-Metal-Induced Nephropathy Damage to the kidney and renal tubules resulting from heavy metal exposure. Damage to the kidney and renal tubules resulting from heavy metal exposure. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C3090 Hematuria Hematuria Blood in the urine. Blood in the urine. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C75545 Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome HUS|Hemolytic-Uremic Syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. C26323 Hematologic Disorder C123272 Pediatric Nephrology Terminology C123181 Henoch-Schönlein Purpura Nephritis Henoch-Schönlein Purpura Nephritis Glomerulonephritis in the context of Henoch-Schönlein purpura. Glomerulonephritis in the context of Henoch-Schönlein purpura. C26833 Nephritis C123272 Pediatric Nephrology Terminology C113400 Hepatorenal Syndrome Hepatorenal Syndrome A syndrome characterized by progressive kidney failure in a patient with cirrhosis or fulminant liver failure. A syndrome characterized by progressive kidney failure in an individual with cirrhosis or fulminant liver failure. C28193 Syndrome C123272 Pediatric Nephrology Terminology C26918 HIV-Associated Nephropathy HIV-associated Nephropathy HIVAN|HIV Nephropathy Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. Kidney disease associated with HIV infection. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C98947 Horseshoe Kidney Horseshoe Kidney A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure. A renal anomaly characterized by fusion across the midline of two distinct and functional kidneys that are connected at the lower poles. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123209 Hutch Diverticulum Hutch Diverticulum A congenital out pouching of the bladder involving the ureteral hiatus. A congenital out pouching of the bladder involving the ureteral hiatus. C2900 Bladder Disorder C123272 Pediatric Nephrology Terminology C26796 Hydronephrosis Hydronephrosis Dilation of the urinary collecting space in the kidney. Dilation of the urinary collecting space in the kidney. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C26927 Hydroureter Hydroureter Dilatation of the ureter caused by obstruction of urine flow. Dilation of the ureter. C3675 Obstructive Uropathy C123272 Pediatric Nephrology Terminology C113213 Hyperaldosteronism Hyperaldosteronism Aldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. The condition that results from prolonged exposure to a supranormal concentration of aldosterone, characterized by hypertension, and may include hypokalemia. C36292 Laboratory Test Result C3009 Endocrine System Disorder C123272 Pediatric Nephrology Terminology C37972 Hypoalbuminemia Hypoalbuminemia Concentration of serum albumin below normal limits for the age related normal range. Concentration of serum albumin below normal limits for the age related normal range. C36292 Laboratory Test Result C123272 Pediatric Nephrology Terminology C120893 Hypoplasia Hypoplasia Incomplete or underdevelopment of a tissue or organ. Incomplete or underdevelopment of a tissue or organ. C3367 Finding C123272 Pediatric Nephrology Terminology C40341 Hypospadias Hypospadias A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the ventrum of the penis, scrotum, or perineum. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C128143 Idiopathic Crescentic Glomerulonephritis Idiopathic Crescentic Glomerulonephritis Crescentic glomerulonephritis, the cause of which is unknown. Crescentic glomerulonephritis, the cause of which is not known. C35444 Crescentic Glomerulonephritis C123272 Pediatric Nephrology Terminology C128108 Idiopathic Membranous Glomerulopathy Idiopathic Membranous Glomerulopathy Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown. Membranous glomerulopathy, the cause of which is not known. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C122796 Idiopathic Nephrotic Syndrome Idiopathic Nephrotic Syndrome Nephrotic syndrome for which no cause has been identified. Nephrotic syndrome for which no cause has been identified. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123195 Idiopathic Renal Papillary Necrosis Idiopathic Renal Papillary Necrosis Necrosis of the renal papillae, for which no underlying cause has been identified. Necrosis of the renal papillae, for which no underlying cause has been identified. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123249 Idiopathic Retroperitoneal Fibrosis Idiopathic Retroperitoneal Fibrosis Ormond's Disease A condition characterized by abnormal proliferation of fibrous tissue in the compartment posterior to the peritoneum, for which no underlying cause has been identified. A condition characterized by abnormal proliferation of fibrous tissue in the compartment posterior to the peritoneum, for which no underlying cause has been identified. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C34643 IgA Nephropathy IgA Nephropathy A chronic autoimmune glomerulonephritis characterized by the deposition of immunoglobulin A in the mesangium of the glomeruli. It is manifested with hematuria and mild proteinuria. Glomerulonephropathy characterized by mesangial deposition of IgA antibody in the glomerulus. It is often characterized by hematuria, which may include episodes of visible hematuria during acute illness, and/or proteinuria. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology Berger's Disease C123140 IgA Nephropathy, Familal IgA Nephropathy, Familial IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring. IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring. C34643 IgA Nephropathy C123272 Pediatric Nephrology Terminology C123141 IgA Nephropathy, Infection-associated IgA Nephropathy, Infection-associated IgA nephropathy co-occurring with infectious disease. IgA nephropathy co-occurring with infectious disease. C34643 IgA Nephropathy C123272 Pediatric Nephrology Terminology C121210 IgA Nephropathy, Liver Disease-associated IgA Nephropathy, Liver Disease-associated IgA nephropathy secondary to hepatobiliary disease. IgA nephropathy secondary to hepatobiliary disease. C34643 IgA Nephropathy C123272 Pediatric Nephrology Terminology C123022 IgM - Associated Nephropathy IgM - Associated Nephropathy A condition characterized by deposition of IgM antibody in the glomerulus. A condition characterized by deposition of IgM antibody in the glomerulus. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123055 Immune Complex Mediated Membranoproliferative Glomerulonephritis Immune Complex Mediated Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis Type 1|Membranoproliferative Glomerulonephritis Type I Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. C34644 Membranoproliferative Glomerulonephritis C123272 Pediatric Nephrology Terminology C122800 Incident Nephrotic Syndrome Incident Nephrotic Syndrome New onset nephrotic syndrome. New onset nephrotic syndrome. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123178 Incontinent Epispadias Incontinent Epispadias Epispadias with urinary incontinence. Epispadias with urinary incontinence. C98923 Epispadias C123272 Pediatric Nephrology Terminology C123250 Infundibular Stenosis Infundibular Stenosis Infundibular Stenosis of the Calyces of the Kidney Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow. Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C26834 Interstitial Nephritis Tubulointerstitial Nephritis Inflammation of the renal tubules and supporting tissues of the kidney. Inflammation of the renal tubules and supporting tissues of the kidney. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123237 Intravesical Ureterocele Intravesical Ureterocele Orthotopic Ureterocele A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) C123159 Ureterocele C123272 Pediatric Nephrology Terminology C123196 Ischemic Nephropathy Ischemic Nephropathy Nephropathy due to hypoperfusion of the kidney. Nephropathy due to hypoperfusion of the kidney. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C3150 Kidney Neoplasm Kidney Tumor A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. Neoplasia located in the kidney. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123029 Leptospirosis Nephropathy Leptospirosis Nephropathy Leptospiral Nephropathy Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury. Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C84827 Liddle Syndrome Liddle Syndrome An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism. An autosomal dominant syndrome caused by dysregulation of the amiloride-sensitive sodium channel, which is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin, and hypoaldosteronism. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123130 Lithium - Induced Nephropathy Lithium - Induced Nephropathy Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus. Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C34789 Lupus Glomerulonephritis Lupus Glomerulonephritis SLE Nephritis|Lupus Nephritis Glomerulonephritis in the context of systemic lupus erythematosus. Glomerulonephritis in the context of systemic lupus erythematosus. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123030 Magnesium Ammonium Phosphate Urolithiasis Magnesium Ammonium Phosphate Urolithiasis Struvite Urolithiasis Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate. Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate. C114688 Urolithiasis C123272 Pediatric Nephrology Terminology C123197 Malignant Hypertensive Nephropathy Malignant Hypertensive Nephropathy Accelerated Hypertensive Nephropathy Hypertensive nephropathy secondary to malignant hypertension. Hypertensive nephropathy secondary to malignant hypertension. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123171 Medullary Cystic Kidney Disease Type I Medullary Cystic Kidney Disease Type I Autosomal Dominant Interstitial Kidney Disease An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1. An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1. C34750 Cystic Kidney Disease C123272 Pediatric Nephrology Terminology C123172 Medullary Cystic Kidney Disease Type II Medullary Cystic Kidney Disease Type II An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. C34750 Cystic Kidney Disease C123272 Pediatric Nephrology Terminology C34751 Medullary Sponge Kidney Medullary Sponge Kidney A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones. A congenital renal disorder characterized by dilatation and dysplasia of the medullary and papillary portions of the collecting ducts, usually resulting in the formation of medullary cysts and nephrocalcinosis. C34750 Cystic Kidney Disease C123272 Pediatric Nephrology Terminology C123198 Megacalycosis Megacalycosis Isolated enlargement of renal calyces without obstruction. Isolated enlargement of renal calyces without obstruction. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123188 Megacystis - Megaureter Megacystis - Megaureter A condition characterized by a large capacity, thin-walled bladder and megaureter(s). A condition characterized by a large capacity, thin-walled bladder and megaureter(s). C123161 Megaureter C123272 Pediatric Nephrology Terminology C123161 Megaureter Megaureter Enlargement of the diameter of the ureter, which can be partial or complete. Enlargement of the diameter of the ureter, which can be partial or complete. C27148 Ureter Disorder C123272 Pediatric Nephrology Terminology C98983 Melnick-Fraser Syndrome Branchio-oto-renal Syndrome Melnick-Fraser Syndrome An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities. A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C34644 Membranoproliferative Glomerulonephritis Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. Proliferative glomerulonephritis characterized by mesangial hypercellularity, endocapillary proliferation and glomerular capillary wall remodeling. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123056 Membranoproliferative Glomerulonephritis Type 3 (AQ) Membranoproliferative Glomerulonephritis Type 3 (AQ) Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy. Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy. C34644 Membranoproliferative Glomerulonephritis C123272 Pediatric Nephrology Terminology Mesangiocapillary Glomerulonephritis Type 3 C34645 Membranous Glomerulonephritis Membranous Nephropathy Membranous Glomerulonephropathy A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. A condition characterized by thickening of the glomerular basement membrane, resulting from subepithelial or intramembranous immune complex deposition. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123023 Membranous Lupus Nephritis Membranous Lupus Nephritis Membranous nephritis associated with systemic lupus erythematosus. Membranous nephritis associated with systemic lupus erythematosus. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123057 Membranous Nephropathy - Autoimmune Disorder Associated Membranous Nephropathy - Autoimmune Disorder Associated Membranous nephropathy associated with an autoimmune disorder. Membranous nephropathy associated with an autoimmune disorder. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123059 Membranous Nephropathy - Drug Associated Membranous Nephropathy - Drug Associated Drug Associated Membranous Nephropathy Membranous nephropathy associated with exposure to a drug. Membranous nephropathy associated with exposure to a drug. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123060 Membranous Nephropathy - Idiopathic Membranous Nephropathy - Idiopathic Idiopathic Membranous Nephropathy|Idiopathic Membranous Glomerulopathy Membranous nephropathy for which no cause has been identified. Membranous nephropathy for which no cause has been identified. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123061 Membranous Nephropathy - Infection Associated Membranous Nephropathy - Infection Associated Membranous nephropathy associated with infectious disease. Membranous nephropathy associated with infectious disease. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123062 Membranous Nephropathy - Malignancy Associated Membranous Nephropathy - Malignancy Associated Malignancy Associate Membranous Nephropathy Membranous nephropathy in the context of malignancy. Membranous nephropathy in the context of malignancy. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123063 Membranous Nephropathy - NEP Induced Membranous Nephropathy - NEP Induced Neural Endopeptidase Induced Membranous Nephropathy|NEP Induced Membranous Nephropathy Membranous nephropathy due to neural endopeptidase (NEP) antibodies. Membranous nephropathy due to neural endopeptidase (NEP) antibodies. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123064 Membranous Nephropathy - PLA2R Induced Membranous Nephropathy - PLA2R Induced PLA2R Induced Membranous Nephropathy|Phospholipase 2 Receptor Membranous Nephropathy Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies. Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C128144 Membranous Nephropathy - Secondary Membranous Nephropathy - Secondary Secondary Membranous Glomerulopathy Membranous nephropathy due to another medical condition. Membranous nephropathy due to another medical condition. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C123065 Membranous Nephropathy - THSD7A Induced Membranous Nephropathy - THSD7A Induced Thrombospondin Type-1 domain-containing Protein Membranous Nephropathy|THSD7A Induced Membranous Nephropathy Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies. Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies. C34645 Membranous Nephropathy C123272 Pediatric Nephrology Terminology C35445 Mesangial Proliferative Glomerulonephritis Mesangial Proliferative Glomerulonephritis A focal inflammation of glomeruli secondary to mesangial cell proliferation and matrix deposition within the mesangium. Glomerulonephritis characterized by at least three mesangial cells per mesangial region in a 3 micron tissue section. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C34844 Minimal Change Glomerulonephritis Minimal Change Disease Minimal Change Nephropathy A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. Nephrotic syndrome that demonstrates little histologic evidence of pathology by light microscopy; ultra-structural change is evident under electron microscopy, demonstrating diffuse effacement and fusion of podocyte processes. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology Lipoid Nephrosis|Nil Disease C123131 mTOR Inhibitor - Induced Nephropathy mTOR Inhibitor - Induced Nephropathy Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors. Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123031 Multicystic Dysplastic Kidney Multicystic Dysplastic Kidney Abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function. Abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function. C34750 Cystic Kidney Disease C123272 Pediatric Nephrology Terminology C75120 Nail-Patella Syndrome Nail-Patella Syndrome A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma. A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123199 Nephritic Syndrome Nephritic Syndrome A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria. A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C84918 Nephrocalcinosis Nephrocalcinosis Deposition of calcium in the renal parenchyma, resulting from high levels of calcium in the blood and/or urine. Calcium deposition in the renal parenchyma. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C84919 Nephrogenic Diabetes Insipidus Nephrogenic Diabetes Insipidus Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone. Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone (vasopressin), which is caused by mutation(s) in the AVPR2 gene, encoding the vasopressin V2 receptor (antidiuretic hormone receptor), or by mutation(s) in the AQP2 gene, encoding aquaporin-2. Inheritance may by X-linked (AVPR2) or autosomal dominant or recessive (AQP2). C43263 Diabetes Insipidus C123272 Pediatric Nephrology Terminology C123200 Nephronophthisis Nephronophthisis Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C34843 Nephropathy Nephropathy A term referring to any disease affecting the kidneys. Disorders affecting the kidney, including inflammatory and non-inflammatory conditions. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123201 Nephropathy Associated with Rhabdomyolysis Nephropathy Associated with Rhabdomyolysis Nephropathy associated with rhabdomyolysis. Nephropathy associated with rhabdomyolysis. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123132 Nephropathy due to Aminoglycosides Nephropathy due to Aminoglycosides Kidney damage resulting from aminoglycosides. Kidney damage resulting from aminoglycosides. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123133 Nephropathy due to Amphotericin Nephropathy due to Amphotericin Kidney damage resulting from amphotericin. Kidney damage resulting from amphotericin. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123134 Nephropathy due to Analgesic Drugs Nephropathy due to Analgesic Drugs Kidney damage resulting from analgesic drugs. Kidney damage resulting from analgesic drugs. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123135 Nephropathy due to Ciclosporin Nephropathy due to Ciclosporin Kidney damage resulting from ciclosporin. Kidney damage resulting from ciclosporin. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123136 Nephropathy due to Cisplatin Nephropathy due to Cisplatin Kidney damage resulting from cisplatin. Kidney damage resulting from cisplatin. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123137 Nephropathy due to Tacrolimus Nephropathy due to Tacrolimus Kidney damage resulting from tacrolimus. Kidney damage resulting from tacrolimus. C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123066 Nephrotic Range Proteinuria Nephrotic Range Proteinuria In children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen. In children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen. C38012 Proteinuria C123272 Pediatric Nephrology Terminology C34845 Nephrotic Syndrome Nephrotic Syndrome Nephrosis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. A syndrome characterized by proteinuria, hypoalbuminemia, and varying degrees of edema, and possibly hypercholesteremia. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123067 Nephrotic Syndrome - ACTN4 Associated Nephrotic Syndrome - ACTN4 Associated Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene. Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123068 Nephrotic Syndrome - ADCK4 Associated Nephrotic Syndrome - ADCK4 Associated Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene. Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123069 Nephrotic Syndrome - ANLN Associated Nephrotic Syndrome - ANLN Associated Nephrotic syndrome attributed to mutation(s) in the ANLN gene. Nephrotic syndrome attributed to mutation(s) in the ANLN gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123070 Nephrotic Syndrome - ARHGAP24 Associated Nephrotic Syndrome - ARHGAP24 Associated Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene. Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123071 Nephrotic Syndrome - ARHGDIA Associated Nephrotic Syndrome - ARHGDIA Associated Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene. Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123072 Nephrotic Syndrome - CD2AP Associated Nephrotic Syndrome - CD2AP Associated Nephrotic syndrome attributed to mutation(s) in the CD2AP gene. Nephrotic syndrome attributed to mutation(s) in the CD2AP gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123073 Nephrotic Syndrome - CFH Associated Nephrotic Syndrome - CFH Associated Nephrotic syndrome attributed to mutation(s) in the CFH gene. Nephrotic syndrome attributed to mutation(s) in the CFH gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123074 Nephrotic Syndrome - COQ2 Associated Nephrotic Syndrome - COQ2 Associated Nephrotic syndrome attributed to mutation(s) in the COQ2 gene. Nephrotic syndrome attributed to mutation(s) in the COQ2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123075 Nephrotic Syndrome - COQ6 Associated Nephrotic Syndrome - COQ6 Associated Nephrotic syndrome attributed to mutation(s) in the COQ6 gene. Nephrotic syndrome attributed to mutation(s) in the COQ6 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123076 Nephrotic Syndrome - CRB2 Associated Nephrotic Syndrome - CRB2 Associated Nephrotic syndrome attributed to mutation(s) in the CRB2 gene. Nephrotic syndrome attributed to mutation(s) in the CRB2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123077 Nephrotic Syndrome - CUBN Associated Nephrotic Syndrome - CUBN Associated Nephrotic syndrome attributed to mutation(s) in the CUBN gene. Nephrotic syndrome attributed to mutation(s) in the CUBN gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123078 Nephrotic Syndrome - Cytomegalovirus Associated Nephrotic Syndrome - Cytomegalovirus Associated Cytomegalovirus Associated Nephrotic Syndrome Nephrotic syndrome associated with a cytomegalovirus infection. Nephrotic syndrome associated with a cytomegalovirus infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123079 Nephrotic Syndrome - DGKE Associated Nephrotic Syndrome - DGKE Associated Nephrotic syndrome attributed to mutation(s) in the DGKE gene. Nephrotic syndrome attributed to mutation(s) in the DGKE gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123080 Nephrotic Syndrome - EMP2 Associated Nephrotic Syndrome - EMP2 Associated Nephrotic syndrome attributed to mutation(s) in the EMP2 gene. Nephrotic syndrome attributed to mutation(s) in the EMP2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123081 Nephrotic Syndrome - Epstein-Barr Virus Associated Nephrotic Syndrome - Epstein-Barr Virus Associated Epstein-Barr Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with Epstein-Barr infection. Nephrotic syndrome associated with Epstein-Barr infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C122803 Nephrotic Syndrome - Frequently Relapsing Nephrotic Syndrome - Frequently Relapsing Frequently Relapsing Nephrotic Syndrome|FRNS Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year. Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123082 Nephrotic Syndrome - Hepatitis B Virus Associated Nephrotic Syndrome - Hepatitis B Virus Associated Hepatitis B Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with hepatitis B. Nephrotic syndrome associated with hepatitis B. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123083 Nephrotic Syndrome - Hepatitis C Virus Associated Nephrotic Syndrome - Hepatitis C Virus Associated Hepatitis C Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with a hepatitis C infection. Nephrotic syndrome associated with a hepatitis C infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123084 Nephrotic Syndrome - Human Immunodeficiency Virus Associated Nephrotic Syndrome - Human Immunodeficiency Virus Associated Human Immunodeficiency Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with human immunodeficiency virus infection. Nephrotic syndrome associated with human immunodeficiency virus infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123085 Nephrotic Syndrome - INF2 Associated Nephrotic Syndrome - INF2 Associated Nephrotic syndrome attributed to mutation(s) in the INF2 gene. Nephrotic syndrome attributed to mutation(s) in the INF2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123086 Nephrotic Syndrome - Infection Associated Nephrotic Syndrome - Infection Associated Infection Associated Nephrotic Syndrome Nephrotic syndrome associated with an infectious process. Nephrotic syndrome associated with an infectious process. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C128110 Nephrotic Syndrome - Infrequently Relapsing Nephrotic Syndrome - Infrequently Relapsing Nephrotic syndrome in which there is a relapse occuring less than twice in the first six months, or less than four times in a year. Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123087 Nephrotic Syndrome - ITGA3 Associated Nephrotic Syndrome - ITGA3 Associated Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene. Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123088 Nephrotic Syndrome - ITGB4 Associated Nephrotic Syndrome - ITGB4 Associated Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene. Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123089 Nephrotic Syndrome - LAMB2 Associated Nephrotic Syndrome - LAMB2 Associated Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene. Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123090 Nephrotic Syndrome - LMX1B Associated Nephrotic Syndrome - LMX1B Associated Nephrotic syndrome attributed to mutation(s) in the LMX1B gene. Nephrotic syndrome attributed to mutation(s) in the LMX1B gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123091 Nephrotic Syndrome - Malaria Associated Nephrotic Syndrome - Malaria Associated Malaria Associated Nephrotic Syndrome Nephrotic syndrome associated with malaria. Nephrotic syndrome associated with malaria. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123092 Nephrotic Syndrome - MEFV Associated Nephrotic Syndrome - MEFV Associated Nephrotic syndrome attributed to mutation(s) in the MEFV gene. Nephrotic syndrome attributed to mutation(s) in the MEFV gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123093 Nephrotic Syndrome - MYO1E Associated Nephrotic Syndrome - MYO1E Associated Nephrotic syndrome attributed to mutation(s) in the MYO1E gene. Nephrotic syndrome attributed to mutation(s) in the MYO1E gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123094 Nephrotic Syndrome - NEIL1 Associated Nephrotic Syndrome - NEIL1 Associated Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene. Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C122795 Nephrotic Syndrome - NPHS1 Associated Nephrotic Syndrome - NPHS1 Associated Congenital Nephrotic Syndrome - Finnish Type Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life. Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123095 Nephrotic Syndrome - NPHS2 Associated Nephrotic Syndrome - NPHS2 Associated Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene. Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123096 Nephrotic Syndrome - Parvovirus B19 Associated Nephrotic Syndrome - Parvovirus B19 Associated Parvovirus B19 Associated Nephrotic Syndrome Nephrotic syndrome associated with a parvovirus B19 infection. Nephrotic syndrome associated with a parvovirus B19 infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123097 Nephrotic Syndrome - PDSS2 Associated Nephrotic Syndrome - PDSS2 Associated Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene. Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123098 Nephrotic Syndrome - PLCE1 Associated Nephrotic Syndrome - PLCE1 Associated Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene. Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123099 Nephrotic Syndrome - PTPRO Associated Nephrotic Syndrome - PTPRO Associated Nephrotic Syndrome - GLEPP1 Associated Nephrotic syndrome attributed to mutation(s) in the PTPRO gene. Nephrotic syndrome attributed to mutation(s) in the PTPRO gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C122802 Nephrotic Syndrome - Relapse Nephrotic Syndrome - Relapse Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission. Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123100 Nephrotic Syndrome - SCARB2 Associated Nephrotic Syndrome - SCARB2 Associated Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene. Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123101 Nephrotic Syndrome - Simian Virus 40 Associated Nephrotic Syndrome - Simian Virus 40 Associated Simian Virus 40 Associated Nephrotic Syndrome Nephrotic syndrome associated with a simian virus 40 infection. Nephrotic syndrome associated with a simian virus 40 infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123102 Nephrotic Syndrome - SMARCAL1 Associated Nephrotic Syndrome - SMARCAL1 Associated Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene. Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123103 Nephrotic Syndrome - Syphilis Associated Nephrotic Syndrome - Syphilis Associated Syphilis Associated Nephrotic Syndrome Nephrotic syndrome associated with a syphilis infection. Nephrotic syndrome associated with a syphilis infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123104 Nephrotic Syndrome - Toxoplasmosis Associated Nephrotic Syndrome - Toxoplasmosis Associated Toxoplasmosis Associated Nephrotic Syndrome Nephrotic syndrome associated with a toxoplasmosis infection. Nephrotic syndrome associated with a toxoplasmosis infection. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123105 Nephrotic Syndrome - TRPC6 Associated Nephrotic Syndrome - TRPC6 Associated Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene. Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123106 Nephrotic Syndrome - WT1 Associated Nephrotic Syndrome - WT1 Associated Nephrotic syndrome attributed to mutation(s) in the WT1 gene. Nephrotic syndrome attributed to mutation(s) in the WT1 gene. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C122798 Nephrotic Syndrome of Childhood - Steroid Resistant Nephrotic Syndrome of Childhood - Steroid Resistant Nephrotic Syndrome-Steroid-Resistant|Steroid-Resistant Nephrotic Syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive Nephrotic Syndrome of Childhood - Steroid Sensitive Steroid-Sensitive Nephrotic Syndrome|Steroid-Responsive Nephrotic Syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C122799 Nephrotic Syndrome- Steroid Dependent Nephrotic Syndrome- Steroid Dependent Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids. Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123124 Nephrotic Syndrome-Remission, Partial Remission Nephrotic Syndrome-Remission, Partial Remission Partial Remission Nephrotic Syndrome Remission Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment. Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C79696 Neurogenic Bladder Neurogenic Bladder Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). A dysfunctional bladder caused by neurologic disease. C36286 Urinary System Finding C123272 Pediatric Nephrology Terminology C123206 Non-Neurogenic Neurogenic Bladder Non-Neurogenic Neurogenic Bladder Hinman Syndrome Bladder sphincter dysfunction in an individual with normal bladder innervation, which may lead to renal impairment. Bladder sphincter dysfunction in an individual with normal bladder innervation, which may lead to renal impairment. C79696 Neurogenic Bladder C123272 Pediatric Nephrology Terminology C123189 Non-Obstructed Megaureter Non-Obstructed Megaureter A megaureter in which there is no obstruction at the ureterovesical junction. A megaureter in which there is no obstruction at the ureterovesical junction. C123161 Megaureter C123272 Pediatric Nephrology Terminology C123190 Non-Obstructed Non-Refluxing Megaureter Non-Obstructed Non-Refluxing Megaureter A megaureter in which there is no obstruction at the ureterovesical junction and no vesicoureteral reflux. A megaureter in which there is no obstruction at the ureterovesical junction and no vesicoureteral reflux. C123161 Megaureter C123272 Pediatric Nephrology Terminology C123138 NSAID-Induced Nephropathy NSAID-Induced Nephropathy Non-steroidal Anti-inflammatory Drug-Induced Nephropathy Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs). Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs). C114583 Drug-Induced Kidney Injury C123272 Pediatric Nephrology Terminology C123042 Obesity Related Glomerulopathy Obesity Related Glomerulopathy Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity. Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity. C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123191 Obstructed Megaureter Obstructed Megaureter A megaureter in which there is obstruction to the flow of urine at the ureterovesical junction. A megaureter in which there is obstruction to the flow of urine at the ureterovesical junction. C123161 Megaureter C123272 Pediatric Nephrology Terminology C120902 Obstructive Nephropathy Obstructive Nephropathy Renal damage and impaired renal function secondary to urinary tract obstruction. Nephropathy that is caused by an impediment to flow in the urinary tract. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123238 Obstructive Ureterocele Obstructive Ureterocele Stenotic A ureterocele with a small, obstructive orifice. A ureterocele with a small, obstructive orifice. C123159 Ureterocele C123272 Pediatric Nephrology Terminology C3675 Obstructive Uropathy Obstructive Uropathy Uropathy that is caused by an impediment to flow in the urinary tract. Uropathy that is caused by an impediment to flow in the urinary tract. C79805 Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C84940 Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Lowe Syndrome An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction. An X-linked, multisystem, metabolic disorder caused by mutations in the OCRL1 gene, the primary manifestations of which result from involvement of the eyes, nervous system and kidneys, and include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria, and renal tubular dysfunction. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C123202 Oligomeganephronia Oligomeganephronia Congenital renal hypoplasia characterized by small kidneys; reduced nephron number; tubular and glomerular hypertrophy. Congenital renal hypoplasia characterized by small kidneys; reduced nephron number; tubular and glomerular hypertrophy. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123183 P1 Hydronephrosis P1 Hydronephrosis Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is 10 to less than 15 mm, 2) central calyceal dilation may be present, but peripheral calyceal dilation is considered to increase risk, 3) renal parenchyma should have normal thickness and appearance, 4) the ureter is not seen, and 5) the bladder is normal. If there is central calyceal dilation but the APRPD is less than 10 mm, it is still considered UTD P1. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is 10 to less than 15 mm, 2) central calyceal dilation may be present, but peripheral calyceal dilation is considered to increase risk, 3) renal parenchyma should have normal thickness and appearance, 4) the ureter is not seen, and 5) the bladder is normal. If there is central calyceal dilation but the APRPD is less than 10 mm, it is still considered UTD P1. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C26796 Hydronephrosis C123272 Pediatric Nephrology Terminology C123184 P2 Hydronephrosis P2 Hydronephrosis Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is greater than or equal to 15 mm, 2) the calyces may be dilated centrally and peripherally, 3) or a dilated ureter is visible, 4) the parenchymal thickness and appearance is normal, and 5) the bladder is normal. Cases in which there is peripheral calyceal dilation but the APRPD is less than 15 mm are classified as UTD P2. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is greater than or equal to 15 mm, 2) the calyces may be dilated centrally and peripherally, 3) or a dilated ureter is visible, 4) the parenchymal thickness and appearance is normal, and 5) the bladder is normal. Cases in which there is peripheral calyceal dilation but the APRPD is less than 15 mm are classified as UTD P2. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C26796 Hydronephrosis C123272 Pediatric Nephrology Terminology C123185 P3 Hydronephrosis P3 Hydronephrosis Postnatal Hydronephrosis with the following clinical findings: 1) calyceal dilation and the ureter are the same as those in UTD P2, 2) the renal parenchymal is thinned, has increased echogenicity and/or has decreased corticomedullary differentiation, or 3) the bladder is abnormal (wall thickening, ureterocele, posterior urethral dilation). Cases in which there are parenchymal abnormalities but the APRPD is less than 15 mm, are classified as UTD P3. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Postnatal Hydronephrosis with the following clinical findings: 1) calyceal dilation and the ureter are the same as those in UTD P2, 2) the renal parenchymal is thinned, has increased echogenicity and/or has decreased corticomedullary differentiation, or 3) the bladder is abnormal (wall thickening, ureterocele, posterior urethral dilation). Cases in which there are parenchymal abnormalities but the APRPD is less than 15 mm, are classified as UTD P3. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C26796 Hydronephrosis C123272 Pediatric Nephrology Terminology C99005 Patent Urachus Patent Urachus A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus. A persistent opening between the bladder and the umbilicus through the urachus. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123108 Pauci-Immune Glomerulonephritis - ANCA Negative Pauci-immune Glomerulonephritis - ANCA Negative Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA). Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA). C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123109 Pauci-Immune Glomerulonephritis - Renal Limited Pauci-immune Glomerulonephritis - Renal Limited Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney. Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123110 Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis Pauci-immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody. Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology Churg-Strauss Syndrome Associated Glomerulonephritis C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis Wegener Granulomatosis Glomerulonephritis in the context of granulomatosis with polyangiitis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present. Glomerulonephritis in the context of granulomatosis with polyangiitis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C123112 Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis Pauci-immune Glomerulonephritis associated with Microscopic Polyangiitis Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present. Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C99007 Pelviureteric Junction Obstruction Pelviureteric Junction Obstruction Ureteropelvic Junction Obstruction|Obstruction of Pelviureteric Junction A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis. Complete or partial blockage of the ureter at the point where it enters the kidney. C79805 Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C122990 Penile Chordee Penile Chordee Congenital curvature of the penis. Congenital curvature of the penis. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123016 Perinephric Abscess Perinephric Abscess An abscess that is located outside the renal capsule, but which is within Gerota's space. An abscess that is located outside the renal capsule, but which is within Gerota's space. C26686 Abscess C123272 Pediatric Nephrology Terminology C128145 Pierson Syndrome Pierson Syndrome An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities. An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities. C35337 Congenital Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C26847 Polyarteritis Nodosa Polyarteritis Nodosa Panarteritis Nodosa|PAN|Classic Polyarteritis Nodosa|Periarteritis Nodosa A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative. A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative. C26912 Vasculitis C123272 Pediatric Nephrology Terminology C75464 Polycystic Kidney Disease Polycystic Kidney Disease Fibrocystic Renal Disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. An inherited form of kidney disease characterized by multiple renal cysts. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C99021 Posterior Urethral Valve Posterior Urethral Valve Congenital Posterior Urethral Valves A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. Complete or partial blockage of the posterior portion of the urethra caused by obstructing leaflets. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123210 Posterior Urethral Valves Type 1 Posterior Urethral Valves Type 1 A posterior urethral valve extending from the vera montanum towards the distal meatus. A posterior urethral valve extending from the vera montanum towards the distal meatus. C99021 Posterior Urethral Valve C123272 Pediatric Nephrology Terminology C123211 Posterior Urethral Valves Type 3 Posterior Urethral Valves Type 3 A posterior urethral valve, presumed to result from incomplete canalization of the urethra, that is located immediately distal to the vera montanum. A posterior urethral valve, presumed to result from incomplete canalization of the urethra, that is located immediately distal to the vera montanum. C99021 Posterior Urethral Valve C123272 Pediatric Nephrology Terminology C122801 Prevalent Nephrotic Syndrome Prevalent Nephrotic Syndrome Pre-existing nephrotic syndrome. Pre-existing nephrotic syndrome. C34845 Nephrotic Syndrome C123272 Pediatric Nephrology Terminology C123113 Primary Collapsing Glomerulopathy Primary Collapsing Glomerulopathy Collapsing glomerulopathy for which no underlying cause has been identified. Collapsing glomerulopathy for which no underlying cause has been identified. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C123229 Primary Fanconi Syndrome Primary Fanconi Syndrome A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. C28193 Syndrome C123272 Pediatric Nephrology Terminology C45434 Primary Focal Segmental Glomerulosclerosis Primary Focal Segmental Glomerulosclerosis Primary FSGS Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified. Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified. C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123158 Primary Hyperoxaluria Primary Hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C123212 Primary Hyperoxaluria Type I Primary Hyperoxaluria Type I Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency. Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency. C123158 Primary Hyperoxaluria C123272 Pediatric Nephrology Terminology C123213 Primary Hyperoxaluria Type II Primary Hyperoxaluria Type II Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency. Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency. C123158 Primary Hyperoxaluria C123272 Pediatric Nephrology Terminology C123214 Primary Hyperoxaluria Type III Primary Hyperoxaluria Type III Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations. Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations. C123158 Primary Hyperoxaluria C123272 Pediatric Nephrology Terminology C38012 Proteinuria Proteinuria The presence of abnormal amounts of protein in the urine. The presence of abnormal amounts of protein in the urine. C36292 Laboratory Test Result C123272 Pediatric Nephrology Terminology C123218 Proximal Renal Tubular Acidosis Proximal Renal Tubular Acidosis Type II Renal Tubular Acidosis Impairment in renal proximal tubule bicarbonate reabsorption that results in a hypokalemic hyperchloremic metabolic acidosis, which is most commonly associated with renal Fanconi syndrome. Impairment in renal proximal tubule bicarbonate reabsorption that results in a hypokalemic hyperchloremic metabolic acidosis, which is most commonly associated with renal Fanconi syndrome. C28129 Renal Tubular Acidosis C123272 Pediatric Nephrology Terminology C85033 Prune Belly Syndrome Prune Belly Syndrome Syndrome of Agenesis of Abdominal Muscles|Triad Syndrome A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes. A congenital syndrome, occurring almost exclusively in males, characterized by partial or complete absence of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes, with or without renal insufficiency. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology Eagle-Barrett Syndrome C123251 Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type I Autosomal Recessive|PHA1B A hereditary, heterogeneous disorder of electrolyte metabolism that is characterized by renal resistance to aldosterone action, resulting in salt wasting, hypotension, hyperkalemia, and metabolic acidosis. An autosomal recessive condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the SCNN1A, SCNN1B, or SCNN1G genes encoding subunits of the epithelial sodium channel (ENaC). C85034 Pseudohypoaldosteronism C123272 Pediatric Nephrology Terminology C123252 Pseudohypoaldosteronism Type 2 Pseudohypoaldosteronism Type 2 Gordon Syndrome A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels. A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels. C85034 Pseudohypoaldosteronism C123272 Pediatric Nephrology Terminology C123253 Pseudotumor of Kidney Pseudotumor of Kidney A parenchymal lesion, which may appear neoplastic in origin, that results from abnormal architecture of the renal calyx. A parenchymal lesion, which may appear neoplastic in origin, that results from abnormal architecture of the renal calyx. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C34965 Pyelonephritis Pyelonephritis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. An infection of the kidney. C2890 Bacterial Infection C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123032 Pyonephrosis Pyonephrosis Pus within the collecting system of the kidney. Pus within the collecting system of the kidney. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123174 Radiation Cystitis Radiation Cystitis Inflammation of the bladder due to irradiation. Inflammation of the bladder due to irradiation. C26738 Cystitis C123272 Pediatric Nephrology Terminology C123033 Radiation Nephropathy Radiation Nephropathy Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules. Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C35264 Rapidly Progressive Glomerulonephritis Rapidly Progressive Glomerulonephritis RPGN Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. Glomerulonephritis characterized by a rapid decrease in the glomerular filtration rate, typically a 50% reduction occurring over days to weeks. C26784 Glomerulonephritis C123272 Pediatric Nephrology Terminology C120905 Reflux Nephropathy Reflux Nephropathy Chronic kidney damage due to vesicoureteral reflux. Nephropathy associated with retrograde flow of urine into the kidney. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123192 Refluxing Megaureter Refluxing Megaureter Refluxing Non-Obstructed Megaureter A megaureter that demonstrates retrograde urine flow without ureteral obstruction. A megaureter that demonstrates retrograde urine flow without ureteral obstruction. C123161 Megaureter C123272 Pediatric Nephrology Terminology C123193 Refluxing Obstructed Megaureter Refluxing Obstructed Megaureter A megaureter in which there is retrograde flow of urine and a concomitant, episodic obstruction resulting from ureteral folding. A megaureter in which there is retrograde flow of urine and a concomitant, episodic obstruction resulting from ureteral folding. C123161 Megaureter C123272 Pediatric Nephrology Terminology C123017 Renal Abscess Renal Abscess Kidney Abscess An abscess that is located within the renal parenchyma. An abscess that is located within the renal parenchyma. C26686 Abscess C123272 Pediatric Nephrology Terminology C123221 Renal Artery Stenosis Renal Artery Stenosis Narrowing of a main artery in the kidney. Narrowing of a main artery in the kidney. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123222 Renal Artery Thrombosis Renal Artery Thrombosis The formation of a thrombus in the renal artery. The formation of a thrombus in the renal artery. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C9385 Renal Cell Carcinoma Renal Cell Carcinoma A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. A malignant neoplasm arising from the renal parenchyma. C9305 Cancer C123272 Pediatric Nephrology Terminology C3847 Renal Cell Dysplasia Renal Cell Dysplasia Renal Dysplasia A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Abnormal development of the kidney with heterologous elements that is present at birth. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123230 Renal Coloboma Syndrome Renal Coloboma Syndrome Papillorenal Syndrome A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract. A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123018 Renal Cysts and Diabetes Syndrome|Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes RCAD Syndrome|Renal Cysts and Diabetes Syndrome|RCAD Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C28193 Syndrome C123272 Pediatric Nephrology Terminology Maturity Onset Diabetes of the Young, Type 5 C123034 Renal Dysplasia Due to Fetal Exposure to ACE Inhibitor or ARB Renal Dysplasia Due to Fetal Exposure to ACE Inhibitor or ARB Tubular Dysgenesis related to Fetal Exposure to ACE Inhibitor or ARB Tubular dysgenesis resulting from maternal exposure to a class of drugs known as angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB). Tubular dysgenesis resulting from maternal exposure to a class of drugs known as angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB). C3847 Renal Cell Dysplasia C123272 Pediatric Nephrology Terminology C4376 Renal Failure Renal Failure Renal Failure Syndrome An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C122991 Renal Hypertrophy Renal Hypertrophy Hypertrophy of the Kidney Global enlargement of the renal parenchyma in one or both kidneys. Global enlargement of the renal parenchyma in one or both kidneys. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C128146 Renal Infarct Renal Infarct Kidney Infarct Ischemic necrosis of the kidney caused by interruption of the blood supply to the area. Ischemic necrosis of the kidney caused by interruption of the blood supply to the area. C25738 Infarct C123272 Pediatric Nephrology Terminology C114827 Renal Osteodystrophy Renal Osteodystrophy Abnormalities of bone mineral metabolism associated with chronic kidney disease. Abnormalities of bone mineral metabolism associated with chronic kidney disease. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123020 Renal Tuberculosis Renal Tuberculosis Infection of the kidney due to mycobacteria. Infection of the kidney due to mycobacteria. C3423 Tuberculosis C123272 Pediatric Nephrology Terminology C28129 Renal Tubular Acidosis Renal Tubular Acidosis The inability of the kidneys to maintain acid-base homeostasis. The inability of the kidneys to maintain acid-base homeostasis. C27120 Electrolyte Disorder C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123219 Renal Tubular Acidosis Associated With Deafness Renal Tubular Acidosis Associated With Deafness Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations. Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations. C28129 Renal Tubular Acidosis C123272 Pediatric Nephrology Terminology C99042 Renal Vein Thrombosis Renal Vein Thrombosis The formation of a thrombus in the renal vein. The formation of a thrombus in the renal vein. C99107 Venous Thrombosis C123272 Pediatric Nephrology Terminology C123258 Retractile Testicle Retractile Testicle A normal variant in which the testicle may move freely between the scrotum and the groin. A normal variant in which the testicle may move freely between the scrotum and the groin. C26890 Testicular Disorder C123272 Pediatric Nephrology Terminology C118318 Rhabdomyolysis Rhabdomyolysis A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. C107377 Musculoskeletal System Disorder C123272 Pediatric Nephrology Terminology C123035 Schistosomiasis Nephropathy Schistosomiasis Nephropathy Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy. Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123114 Secondary Collapsing Glomerulopathy Secondary Collapsing Glomerulopathy Collapsing glomerulopathy for which an underlying cause has been identified. Collapsing glomerulopathy for which an underlying cause has been identified. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C45435 Secondary Focal Segmental Glomerulosclerosis Secondary Focal Segmental Glomerulosclerosis Secondary FSGS Focal segmental glomerulosclerosis due to another medical condition. Focal segmental glomerulosclerosis due to another medical condition. C37308 Focal Segmental Glomerulosclerosis C123272 Pediatric Nephrology Terminology C123203 Sickle Cell Nephropathy Sickle Cell Nephropathy Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities. Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123173 Simple Cyst of Kidney Simple Cyst of Kidney A homogenous cyst located in the kidney. A homogenous cyst located in the kidney. C34750 Cystic Kidney Disease C123272 Pediatric Nephrology Terminology C122992 Solitary Cyst of Kidney Solitary Cyst of Kidney Solitary Renal Cyst A single cyst located in the kidney. A single cyst located in the kidney. C3149 Kidney Disease C123272 Pediatric Nephrology Terminology C123239 Sphincteric Ureterocele Sphincteric Ureterocele Transsphincteric A ureterocele in which the orifice is distal to the external urinary sphincter. A ureterocele in which the orifice is distal to the external urinary sphincter. C123159 Ureterocele C123272 Pediatric Nephrology Terminology C123231 Syndrome of Apparent Mineralocorticoid Excess Syndrome of Apparent Mineralocorticoid Excess An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123115 Systemic Lupus Erythematosus Nephritis Class I Systemic Lupus Erythematosus Nephritis Class I Minimal Mesangial Lupus Nephritis Systemic lupus erythematosus nephritis that appears normal under light microscopy, but with evidence of immune deposits by immunofluorescence. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis that appears normal under light microscopy, but with evidence of immune deposits by immunofluorescence. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123116 Systemic Lupus Erythematosus Nephritis Class II Systemic Lupus Erythematosus Nephritis Class II Mesangial Proliferative Lupus Nephritis Systemic lupus erythematosus nephritis exhibiting mesangial hypercellularity or mesangial expansion by light microscopy, with mesangial immune deposits. Isolated subepithelial or subendothelial deposits may be visible by immunofluorescence or electron microscopy, but not by light microscopy. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis exhibiting mesangial hypercellularity or mesangial expansion by light microscopy, with mesangial immune deposits. Isolated subepithelial or subendothelial deposits may be visible by immunofluorescence or electron microscopy, but not by light microscopy. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123117 Systemic Lupus Erythematosus Nephritis Class III Systemic Lupus Erythematosus Nephritis Class III Focal Lupus Nephritis Systemic lupus erythematosus nephritis with active of inactive focal, segmental or global endo- or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis with active of inactive focal, segmental or global endo- or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123118 Systemic Lupus Erythematosus Nephritis Class IV Systemic Lupus Erythematosus Nephritis Class IV Diffuse Lupus Nephritis Systemic lupus erythematosus nephritis, with active or inactive diffuse, segmental or global endo- or extracapillary glomerulonephritis involving greater than or equal to 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, with active or inactive diffuse, segmental or global endo- or extracapillary glomerulonephritis involving greater than or equal to 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123119 Systemic Lupus Erythematosus Nephritis Class IV G Systemic Lupus Erythematosus Nephritis Class IV G Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123120 Systemic Lupus Erythematosus Nephritis Class IV S Systemic Lupus Erythematosus Nephritis Class IV S Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123121 Systemic Lupus Erythematosus Nephritis Class V Systemic Lupus Erythematosus Nephritis Class V Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123122 Systemic Lupus Erythematosus Nephritis Class VI Systemic Lupus Erythematosus Nephritis Class VI Advanced Sclerotic Lupus Nephritis Systemic lupus erythematosus nephritis, with 90% or more of glomeruli globally sclerosed without residual activity. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, with 90% or more of glomeruli globally sclerosed without residual activity. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C123272 Pediatric Nephrology Terminology C123182 Terminal Hematuria Terminal Hematuria Gross hematuria that occurs at the end of, or immediately after voiding. Gross hematuria that occurs at the end of, or immediately after voiding. C3090 Hematuria C123272 Pediatric Nephrology Terminology C123259 Testicular Atrophy Testicular Atrophy Loss of testicular volume. Loss of testicular volume. C26890 Testicular Disorder C123272 Pediatric Nephrology Terminology C123264 Testicular Hypotrophy Testicular Hypotrophy Less than expected testicular size. Less than expected testicular size. C26890 Testicular Disorder C123272 Pediatric Nephrology Terminology C78797 Thrombotic Thrombocytopenic Purpura Thrombotic Thrombocytopenic Purpura TTP A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction. A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction. C3991 Immune Thrombocytopenia C78787 Purpura C123272 Pediatric Nephrology Terminology C123123 Tip Lesion Glomerulopathy Tip Lesion Glomerulopathy Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule. Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule. C120887 Glomerulopathy C123272 Pediatric Nephrology Terminology C99085 Townes-Brocks Syndrome Townes-Brocks Syndrome Townes Syndrome An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C2930 Transitional Cell Carcinoma Transitional Cell Carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. A malignant neoplasm arising from transitional epithelium. C9305 Cancer C123272 Pediatric Nephrology Terminology C123175 Trigonitis Trigonitis Inflammation of the trigone of the urinary bladder. Inflammation of the trigone of the urinary bladder. C26738 Cystitis C123272 Pediatric Nephrology Terminology C123036 Tubulointerstitial Disease Tubulointerstitial Disease Disease affecting the renal tubules and interstitium of the kidney. Disease affecting the renal tubules and interstitium of the kidney. C34843 Nephropathy C123272 Pediatric Nephrology Terminology C123021 Tubulointerstitial Nephritis and Uveitis Tubulointerstitial Nephritis and Uveitis TINU An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. C28193 Syndrome C123272 Pediatric Nephrology Terminology C123220 Type I Renal Tubular Acidosis Type I Renal Tubular Acidosis Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis. Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis. C28129 Renal Tubular Acidosis C123272 Pediatric Nephrology Terminology C12326 Undescended Testes Cryptorchidism Undescended Testis|Undescended Testes|Undescended Testicle The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. The persistent failure of one or both testes to descend into the scrotum. C27019 Male Reproductive System Disorder C103185 Congenital Reproductive System Abnormality C123272 Pediatric Nephrology Terminology C101220 Unilateral Renal Agenesis Unilateral Renal Agenesis Congenital Solitary Kidney A congenital abnormality characterized by the presence of only one kidney. A congenital abnormality characterized by the presence of only one kidney. C99041 Renal Agenesis C123272 Pediatric Nephrology Terminology C85216 Urachal Cyst Urachal Cyst A cyst that develops from the remnants of the urachus. Since urachal cysts are non-communicating, they are usually asymptomatic unless infected. A cyst within the urachal remnant. C2978 Cyst C123272 Pediatric Nephrology Terminology C123254 Urachal Diverticulum Urachal Diverticulum A condition in which the urachus fails to close proximal to the bladder, resulting in a non-detrusor, blind-ending pouch at the dome of the bladder. A condition in which the urachus fails to close proximal to the bladder, resulting in a non-detrusor, blind-ending pouch at the dome of the bladder. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123255 Urachal Remnant Urachal Remnant Remaining collapsed and obliterated urachal tissue between the bladder dome and umbilicus. Remaining collapsed and obliterated urachal tissue between the bladder dome and umbilicus. C98885 Congenital Urinary System Abnormality C123272 Pediatric Nephrology Terminology C123233 Ureter Fissus Ureter Fissus Partial Ureteral Duplication A condition in which two ipsilateral ureters unite and drain into the bladder at a single ureteric orifice. A condition in which two ipsilateral ureters unite and drain into the bladder at a single ureteric orifice. C27148 Ureter Disorder C123272 Pediatric Nephrology Terminology C123234 Ureteral Kinking Ureteral Kinking The folding of a ureter, which results in the impediment of urine flow. The folding of a ureter, which results in the impediment of urine flow. C27148 Ureter Disorder C123272 Pediatric Nephrology Terminology C115958 Ureteral Stenosis Ureteral Stenosis Narrowing of the luminal diameter of one or both ureters due to intrinsic factors. An intrinsic narrowing of the lumen of the ureter. C36286 Urinary System Finding C123272 Pediatric Nephrology Terminology C78661 Ureteral Stricture Ureteral Stricture Narrowing of the lumen of the ureter. A narrowing of the ureteral lumen, from disease or dysplasia, involving part or all layers of the ureteral wall. C79476 Urinary Tract Stenosis C123272 Pediatric Nephrology Terminology C78666 Ureteritis Ureteritis An acute or chronic inflammatory process affecting the ureter. Inflammation of the ureter. C27148 Ureter Disorder C123272 Pediatric Nephrology Terminology C123159 Ureterocele Ureterocele A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. C27148 Ureter Disorder C123272 Pediatric Nephrology Terminology C98901 Ureterovesical Obstruction Ureterovesical Obstruction Vesicoureteral Obstruction|Ureterovesico Junction Obstruction Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder. Complete or partial blockage of the ureter at the point where it enters the bladder. C79805 Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C35452 Urethral Meatus Stenosis Meatal Stenosis A narrowing of the opening of the urethra at the external meatus. A pathologic narrowing of the urethra at the orifice. C79805 Urinary Tract Obstruction C123272 Pediatric Nephrology Terminology C123256 Urethral Prolapse Urethral Prolapse Prolapse of the urethral mucosa from the exterior urethral opening. Prolapse of the urethral mucosa from the exterior urethral opening. C36286 Urinary System Finding C123272 Pediatric Nephrology Terminology C79821 Urethral Stricture Urethral Stricture Narrowing of the lumen of the urethra. A narrowing of the urethral lumen from disease or dysplasia involving part or all layers of the urethral wall. C79476 Urinary Tract Stenosis C123272 Pediatric Nephrology Terminology C26904 Urethritis Urethritis Inflammation of the urethra. Inflammation of the urethra. C3430 Urinary System Disorder C123272 Pediatric Nephrology Terminology C123176 Urethrotrigonitis Urethrotrigonitis Inflammation of both the urethra and the trigone of the urinary bladder. Inflammation of both the urethra and the trigone of the urinary bladder. C26738 Cystitis C123272 Pediatric Nephrology Terminology C123037 Uric Acid Nephrolithiasis Uric Acid Nephrolithiasis Nephrolithiasis in which the composition of the stone(s) is predominantly uric acid. Nephrolithiasis in which the composition of the stone(s) is predominantly uric acid. C114667 Kidney Stone C123272 Pediatric Nephrology Terminology C123245 Uric Acid Urolithiasis Uric Acid Urolithiasis Urolithiasis in which the composition of the stones is predominantly urate. Urolithiasis in which the composition of the stones is predominantly urate. C114688 Urolithiasis C123272 Pediatric Nephrology Terminology C123246 Urinary Hesitancy Urinary Hesitancy Difficulty in initiating urination. Difficulty in initiating urination. C123162 Voiding Disorders C123272 Pediatric Nephrology Terminology C78497 Urinary Incontinence Urinary Incontinence Enuresis Involuntary passage of urine outside the body. Involuntary passage of urine outside the body. C123162 Voiding Disorders C123272 Pediatric Nephrology Terminology C123247 Urinary Straining Urinary Straining The need to increase intra-abdominal pressure in order to initiate and maintain voiding. The need to increase intra-abdominal pressure in order to initiate and maintain voiding. C123162 Voiding Disorders C123272 Pediatric Nephrology Terminology C3430 Urinary System Disorder Urinary System Disorder Disorder of Urinary System Disorders of any part of the urologic system. Any disease affecting the urinary system. C2991 Disease or Disorder C123272 Pediatric Nephrology Terminology C50791 Urinary Tract Infection Urinary Tract Infection Urinary Tract Infectious Disease|UTI A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. An infection of the kidneys, ureters, bladder and/or urethra. C26726 Infectious Disorder C3430 Urinary System Disorder C123272 Pediatric Nephrology Terminology C79805 Urinary Tract Obstruction Urinary Tract Obstruction Blockage of the normal flow of contents of the urinary tract. An impediment to the flow of urine along the urinary tract. C3430 Urinary System Disorder C123272 Pediatric Nephrology Terminology C79476 Urinary Tract Stenosis Urinary Tract Stenosis Urinary Tract Stricture An intrinsic narrowing of a lumen of the urinary tract. An intrinsic narrowing of a lumen of the urinary tract. C36286 Urinary System Finding C123272 Pediatric Nephrology Terminology C50792 Urinary Urgency Urinary Urgency An acute and compelling urge to urinate. An acute and compelling urge to urinate. C100104 Sign or Symptom C123272 Pediatric Nephrology Terminology C114688 Urolithiasis Urolithiasis Urinary Stones Stone(s) within the urinary tract. Stone(s) within the urinary tract. C3430 Urinary System Disorder C123272 Pediatric Nephrology Terminology C99105 VACTERL Association VACTERL Association Vertebral Abnormalities, Anal Atresia, Cardiac Abnormalities, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Defects Syndrome An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. C97151 Congenital Systemic Disorder C123272 Pediatric Nephrology Terminology C84467 Vesicoureteral Reflux Vesicoureteral Reflux Vesicoureteric Reflux Abnormal flow of urine from the urinary bladder back into the ureters. Retrograde flow of urine from the urinary bladder into the upper urinary tract. C3430 Urinary System Disorder C123272 Pediatric Nephrology Terminology C123162 Voiding Disorders Voiding Disorders A group of conditions comprising dysfunction of the storage and elimination of urine. A group of conditions comprising dysfunction of the storage and elimination of urine. C2900 Bladder Disorder C123272 Pediatric Nephrology Terminology C3105 Von Hippel-Lindau Syndrome Von Hippel-Lindau Syndrome Von Hippel-Lindau Disease An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004 An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition is characterized by development of capillary hemangioblastomas of the central nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors (endolymphatic sac tumors). C84348 Phakomatosis C123272 Pediatric Nephrology Terminology C85232 Williams Syndrome Williams Syndrome Williams-Beuren Syndrome A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia. A syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology C3267 Wilms Tumor Wilms Tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. A malignant neoplasm of embryonal origin arising within the kidney. C9305 Cancer C123272 Pediatric Nephrology Terminology C3718 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome WAGR Syndrome 11p Partial Monosomy Syndrome|Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay Syndrome|Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes. C2950 Chromosomal Abnormality C123272 Pediatric Nephrology Terminology C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome WAGRO Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome|WAGRO|Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. A condition resembling WAGR (Wilms tumor, aniridia, genitourinary anomalies and developmental delay) syndrome that also includes obesity. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13-p12 in a region containing the WT1, PAX6 and BDNF genes. C3266 Hereditary Neoplastic Syndrome C123272 Pediatric Nephrology Terminology C123038 Xanthogranulomatous Pyelonephritis Xanthogranulomatous Pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. C34965 Pyelonephritis C123272 Pediatric Nephrology Terminology C123265 X-linked Hypophosphatemic Rickets X-linked Hypophosphatemic Rickets An X-linked dominant renal phosphate wasting disorder that results in rickets. An X-linked dominant renal phosphate wasting disorder that results in rickets. C3101 Genetic Disorder C123272 Pediatric Nephrology Terminology