Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Medullary cystic disease of the kidney |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Medullary sponge kidney |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Fibrocystic kidney disease |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
polykystose rénale autosomique dominante |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Polycystic kidney disease, infantile type |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Microcystic renal disease |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Simple renal cyst |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Solitary multilocular renal cyst |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Other specified congenital cystic kidney disease |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
[X]Other cystic kidney diseases |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
FH: Polycystic kidney |
Associated finding |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
1 |
FH: Polycystic kidney |
Associated finding |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
1 |
FH: Polycystic kidney |
Associated finding |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
1 |
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. |
Is a |
False |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|
Counseling for congenital polycystic kidney disease (procedure) |
Has focus |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
2 |
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by a triad of high alpha-fetoprotein levels in both maternal serum and amniotic fluid, cerebral ventriculomegaly, and renal macro- and microcysts. Variable findings include congenital nephrotic syndrome, aqueductal stenosis, gray matter heterotopias, and cardiac malformations, among others. |
Is a |
True |
Congenital cystic kidney disease |
Inferred relationship |
Some |
|