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44513007: Congenital anomaly of the kidney (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
74238013 Congenital anomaly of the kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
781651010 Congenital anomaly of the kidney (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1230104016 Congenital anomaly of kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1230105015 Congenital abnormality of kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1852961000195110 anomalia congenita renale it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3393067010 anomalie congénitale du rein fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
378861000172113 anomalie congénitale des reins fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
423371000274115 Angeborene Fehlbildung der Niere de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
468141000274110 Kongenitale Fehlbildung der Niere de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

138 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of the kidney (disorder) Is a Kidney disease true Inferred relationship Some
Congenital anomaly of the kidney (disorder) Is a Congenital anomaly of the urinary system false Inferred relationship Some
Congenital anomaly of the kidney (disorder) Course Multiple superficial injuries of lower leg false Inferred relationship Some
Congenital anomaly of the kidney (disorder) Finding site Kidney structure false Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Occurrence Congenital false Inferred relationship Some
Congenital anomaly of the kidney (disorder) Finding site Urinary tract includes entire kidney and the urinary tract proper which relate to the ureter, bladder and urethra. false Inferred relationship Some 9
Congenital anomaly of the kidney (disorder) Is a Congenital anomaly of abdomen true Inferred relationship Some
Congenital anomaly of the kidney (disorder) Is a Congenital anomaly of body cavity false Inferred relationship Some
Congenital anomaly of the kidney (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Finding site Kidney structure false Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of the kidney (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of the kidney (disorder) Finding site Kidney structure false Inferred relationship Some 2
Congenital anomaly of the kidney (disorder) Is a Congenital malformation of the urinary system (disorder) true Inferred relationship Some
Congenital anomaly of the kidney (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Finding site Kidney structure true Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of the kidney (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Renal agenesis Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal hypoplasia Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal dysplasia Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Fusion of kidneys (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Biliary malformation associated with renal tubular insufficiency Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Bifid kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital calyceal diverticulum Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital obstructive defect of renal pelvis Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital renal failure Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital nephritis Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital uraemia Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital hydrocalicosis Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital lobulation of kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Double kidney AND/OR pelvis Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital occlusion of ureter Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital arteriovenous fistula of kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital atrophy of kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Melnick-Fraser syndrome Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Accessory kidney (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Discoid kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital calculus of kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital nephrotic syndrome Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital anomaly of renal pelvis Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Double kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital malposition of kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Giant kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital stricture of ureter Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital cystic kidney disease Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Megacalycosis Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Nodular renal blastema Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital abnormal shape of kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital absence of renal papilla Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal agenesis and dysgenesis Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital renal atrophy Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital displaced kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Triple kidney with triple pelvis Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital enlarged kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Unspecified anomaly of kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
[X]Other specified congenital malformations of kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital stricture of ureteropelvic junction Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital hypertrophy of ureteric valve Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Arteriovenous malformation of kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital obstruction of ureteral orifice Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital nephrotic syndrome Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital arteriovenous fistula of kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Ectopic kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital hypoplasia of kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital anomaly of renal blood vessel (disorder) Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Double kidney Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital hydronephrosis Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital hyperplasia of kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Polycystic kidney disease, infantile type Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal coloboma syndrome (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. Is a True Congenital anomaly of the kidney (disorder) 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 anomaly of the kidney (disorder) Inferred relationship Some
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare intellectual disability syndrome characterized by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. There have been no further reports since 1992. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth. Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare constitutional hemolytic anemia that is characterized by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. Is a True Congenital anomaly of the kidney (disorder) 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 anomaly of the kidney (disorder) Inferred relationship Some
syndrome de dyschondrostéose - néphropathie Is a False Congenital anomaly of the kidney (disorder) Inferred relationship Some
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 True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Drash syndrome Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Microcystic renal disease Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Potter's facies Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital single renal cyst (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Lowe syndrome Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Pulmonic stenosis and congenital nephrosis Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal tubular dysgenesis due to twin to twin transfusion Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal tubular dysgenesis (disorder) Is a True Congenital anomaly of the kidney (disorder) 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 anomaly of the kidney (disorder) Inferred relationship Some
A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Renal tubular dysgenesis caused by drug Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by severe hydranencephaly and renal dysplasia or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Cystic hamartoma of lung and kidney Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Diffuse hyperplastic perilobular nephroblastomatosis (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some
Congenital asymmetry of kidneys (disorder) Is a True Congenital anomaly of the kidney (disorder) Inferred relationship Some

This concept is not in any reference sets

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