Nephrolithiasis

Symptom Information:

Symptom ID: HPO:0000787
Synonyms:
Kidney stones [HPO:0000787]
Renal calculi [HPO:0000787]
Renal stones [HPO:0000787]
Urolithiasis [Orphanet:38320]
Kidney stone [Orphanet:38320]
Urolithiasis (disorder) [Orphanet:38320]
Stone in urine (finding) [Orphanet:38320]
Urolith (finding) [Orphanet:38320]
Nephrolithiasis [Orphanet:38320]
Stone in urine [Orphanet:38320]
Urinary Calculi [Orphanet:38320]
Kidney Calculi [Orphanet:38320]
Kidney stones [OMIM:Kidney stones]
Nephrolithiasis [OMIM:Nephrolithiasis]
Renal calculi [OMIM:Renal calculi]
Renal stones [OMIM:Renal stones]
Urinary/renal lithiasis/kidney stones/nephritic colic [Orphanet:38320]
Calculus urinary [Orphanet:38320]
Urolithiases [Orphanet:38320]
Renal stone [Orphanet:38320]
Calculus urinary [MedDRA:10007027]
Calculus of lower urinary tract [MedDRA:10007027]
Calculus of lower urinary tract, unspecified [MedDRA:10007027]
Calculus urinary (NOS) [MedDRA:10007027]
Other lower urinary tract calculus [MedDRA:10007027]
Urinary calculus [MedDRA:10007027]
Urinary calculus, unspecified [MedDRA:10007027]
Urinary tract stone [MedDRA:10007027]
Urolith [MedDRA:10007027]
Urolithiasis [MedDRA:10007027]
Lithuresis [MedDRA:10007027]
Urinary sand [MedDRA:10007027]
Migrating urinary calculus [MedDRA:10007027]
Spontaneous passage of urinary calculus [MedDRA:10007027]
Urolithiases [MedDRA:10046708]
Nephrolithiasis [MedDRA:10029148]
Calculus kidney [MedDRA:10029148]
Calculus of kidney [MedDRA:10029148]
Calculus of kidney and ureter [MedDRA:10029148]
Calculus renal [MedDRA:10029148]
Calculus renal NOS [MedDRA:10029148]
Crystallization kidney [MedDRA:10029148]
Kidney calculus [MedDRA:10029148]
Kidney crystallisation [MedDRA:10029148]
Kidney stone [MedDRA:10029148]
Kidney stones [MedDRA:10029148]
Renal calculi [MedDRA:10029148]
Renal calculus [MedDRA:10029148]
Renal calculus NOS [MedDRA:10029148]
Renal stone [MedDRA:10029148]
Uric acid nephrolithiasis [MedDRA:10029148]
Unilateral renal calculus [MedDRA:10029148]
Kidney crystallization [MedDRA:10029148]
Crystallisation kidney [MedDRA:10029148]
Renal pelvic calcification [MedDRA:10029148]
Nephrolithiasis recurrent [MedDRA:10029148]
Nephrolithiasis (HCS and 2p21del) [OMIM:Nephrolithiasis (HCS and 2p21del)]
Nephrolithiasis (in some patients) [OMIM:Nephrolithiasis (in some patients)]
Nephrolithiasis (rare) [OMIM:Nephrolithiasis (rare)]
Nephrolithiasis (uncommon) [OMIM:Nephrolithiasis (uncommon)]
Renal calculi (rare) [OMIM:Renal calculi (rare)]
Renal calculi (urate and calcium oxalate) [OMIM:Renal calculi (urate and calcium oxalate)]
Renal stones (in one patient) [OMIM:Renal stones (in one patient)]
Urolithiasis [OMIM:Urolithiasis]
Urolithiasis (in some patients) [OMIM:Urolithiasis (in some patients)]
Renal colic [MedDRA:10038419]
Renal colic (finding) [Orphanet:38320]
Ureteric colic (finding) [Orphanet:38320]
Renal Colic [Orphanet:38320]
Renal colic [OMIM:Renal colic]
Renal colic (in some patients) [OMIM:Renal colic (in some patients)]
Quality:
Cross references:
Orphanet:38320 "Urinary/renal lithiasis/kidney stones/nephritic colic" [Orphanet:38320]
OMIM: "Kidney stones" [OMIM:Kidney stones]
OMIM: "Nephrolithiasis" [OMIM:Nephrolithiasis]
OMIM: "Renal calculi" [OMIM:Renal calculi]
OMIM: "Renal stones" [OMIM:Renal stones]
OMIM: "Nephrolithiasis (HCS and 2p21del)" [OMIM:Nephrolithiasis (HCS and 2p21del)]
OMIM: "Nephrolithiasis (in some patients)" [OMIM:Nephrolithiasis (in some patients)]
OMIM: "Nephrolithiasis (rare)" [OMIM:Nephrolithiasis (rare)]
OMIM: "Nephrolithiasis (uncommon)" [OMIM:Nephrolithiasis (uncommon)]
OMIM: "Renal calculi (rare)" [OMIM:Renal calculi (rare)]
OMIM: "Renal calculi (urate and calcium oxalate)" [OMIM:Renal calculi (urate and calcium oxalate)]
OMIM: "Renal stones (in one patient)" [OMIM:Renal stones (in one patient)]
OMIM: "Urolithiasis" [OMIM:Urolithiasis]
OMIM: "Urolithiasis (in some patients)" [OMIM:Urolithiasis (in some patients)]
OMIM: "Renal colic" [OMIM:Renal colic]
OMIM: "Renal colic (in some patients)" [OMIM:Renal colic (in some patients)]
UMLS:C0392525 "Nephrolithiasis" [HPO:0000787]
UMLS:C0451641 "Urolithiasis" [Orphanet:38320]
UMLS:C0455909 "Stone in urine" [Orphanet:38320]
UMLS:C0042018 "Urinary Calculi" [Orphanet:38320]
UMLS:C0392525 "Nephrolithiasis" [Orphanet:38320]
UMLS:C0022650 "Kidney Calculi" [Orphanet:38320]
UMLS:C0152169 "Renal Colic" [Orphanet:38320]
Is a (Direct Parents):
MedDRA Urinary tract lithiasis (excl renal)
HPO         Abnormal renal morphology
MedDRA Renal lithiasis
MedDRA Renal and urinary disorders
Orphanet Abnormality of the urinary system physiology
HPO         Struvite nephrolithiasis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the upper urinary tract(HPO:0010935)
                Abnormality of the kidney(HPO:0000077)
                   Abnormal renal morphology(HPO:0012210)
                      Nephrolithiasis(HPO:0000787)
MedDRA:
Renal and urinary disorders(MedDRA:10038359)
    Nephrolithiasis(HPO:0000787)
Database Frequency: 78 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
ACTH-dependent Cushing syndrome (Orphanet:99892)
ACTH-independent Cushing syndrome (Orphanet:99893)
ACTH-independent macronodular adrenal hyperplasia (Orphanet:189427)
Adenine phosphoribosyltransferase deficiency (Orphanet:976)
Aldosterone-producing adenoma with seizures and neurological abnormalities (Orphanet:369929)
Alkaptonuria (Orphanet:56)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atypical hypotonia - cystinuria syndrome (Orphanet:238523)
Autosomal dominant hypocalcemia (Orphanet:428)
Autosomal recessive distal renal tubular acidosis with deafness (Orphanet:93611)
Autosomal recessive infantile hypercalcemia (Orphanet:300547)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bartter syndrome with hypocalcemia (Orphanet:263417)
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 (Orphanet:96193)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Cerebrotendinous xanthomatosis (Orphanet:909)
Chronic diarrhea due to guanylate cyclase 2C overactivity (Orphanet:314373)
Congenital hypothyroidism (Orphanet:442)
Congenital primary megaureter (Orphanet:617)
Congenital sucrase-isomaltase deficiency (Orphanet:35122)
Cushing disease (Orphanet:96253)
Cushing syndrome (Orphanet:553)
Cushing syndrome due to ectopic ACTH secretion (Orphanet:99889)
Cystinosis (Orphanet:213)
Cystinuria (Orphanet:214)
Cystinuria type A (Orphanet:93612)
Cystinuria type B (Orphanet:93613)
Dent disease type 1 (Orphanet:93622)
Dominant hypophosphatemia with nephrolithiasis or osteoporosis (Orphanet:244305)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
FLOTCH syndrome (Orphanet:2045)
Familial hypocalciuric hypercalcemia (Orphanet:405)
Familial hypocalciuric hypercalcemia type 1 (Orphanet:93372)
Familial hypocalciuric hypercalcemia type 2 (Orphanet:101049)
Familial hypocalciuric hypercalcemia type 3 (Orphanet:101050)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis (Orphanet:31043)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement (Orphanet:2196)
GAPO syndrome (Orphanet:2067)
Glycogen storage disease due to glucose-6-phosphatase deficiency (Orphanet:364)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
HYPERGLYCINURIA (OMIM:138500)
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Hereditary hemorrhagic telangiectasia (Orphanet:774)
Hyperparathyroidism - jaw tumor syndrome (Orphanet:99880)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypoplasminogenemia (Orphanet:722)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Hypouricemia, renal, 2 (OMIM:612076)
Infantile hypophosphatasia (Orphanet:247651)
Kelley-Seegmiller syndrome (Orphanet:79233)
LESCH-NYHAN SYNDROME (OMIM:300322)
Lesch-Nyhan syndrome (Orphanet:510)
Leukonychia totalis (Orphanet:2387)
Ligneous conjunctivitis (Orphanet:97231)
Medullary sponge kidney (Orphanet:1309)
Multiple endocrine neoplasia type 2 (Orphanet:653)
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Oculocerebrorenal syndrome (Orphanet:534)
Primary hyperoxaluria (Orphanet:416)
Progressive external ophthalmoplegia - myopathy - emaciation (Orphanet:352447)
RENAL TUBULAR ACIDOSIS III (OMIM:267200)
Renal coloboma syndrome (Orphanet:1475)
Renal cysts and diabetes syndrome (Orphanet:93111)
SHORT syndrome (Orphanet:3163)
Schwartz-Jampel syndrome (Orphanet:800)
Sebocystomatosis (Orphanet:841)
Steatocystoma multiplex - natal teeth (Orphanet:3184)
Stiff skin syndrome (Orphanet:2833)
Ulna metaphyseal dysplasia syndrome (Orphanet:1837)
Williams syndrome (Orphanet:904)
Wilson disease (Orphanet:905)
Zimmermann-Laband syndrome (Orphanet:3473)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)