Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
4 |
3
|
2016 |
2019 |
Creatinine measurement, serum (procedure)
|
phenotype |
|
Laboratory Procedure
|
124
|
243
|
0.100 |
None |
1.000 |
4 |
2
|
2010 |
2018 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperlysinuria
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Ornithinuria
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Argininuria
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Inherited aminoaciduria
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Cystinuria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
22
|
83
|
1.000 |
definitive |
1.000 |
55 |
33
|
1999 |
2018 |
Cystinuria type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
4
|
7
|
0.100 |
None |
1.000 |
10 |
1
|
1999 |
2010 |
Cystinuria, Type B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
|
0.330 |
None |
1.000 |
4 |
|
2004 |
2017 |
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
84
|
4
|
0.100 |
None |
|
0 |
|
|
|
Lysinuric Protein Intolerance
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
21
|
47
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Recurrent urinary tract infection
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
237
|
21
|
0.100 |
None |
|
0 |
|
|
|
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.140 |
None |
1.000 |
6 |
3
|
2010 |
2018 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2017 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.100 |
None |
1.000 |
2 |
3
|
2010 |
2018 |
Nephrolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
242
|
99
|
0.120 |
None |
1.000 |
2 |
|
2007 |
2010 |
Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
296
|
40
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Nephritis, Interstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
79
|
5
|
0.300 |
limited |
|
0 |
|
|
|
Nephritis, Tubulointerstitial
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
92
|
6
|
0.300 |
limited |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|