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58471003: Renal tubule structure (body structure)


Status: current, Not 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
97168011 Renal tubule en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
498175010 Renal tubule structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
797207019 Renal tubule structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3927051000005117 struktur af nyretubulus da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


31 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Renal tubule structure Is a Nephron structure true Inferred relationship Some
Renal tubule structure del af Entire nephron false Additional relationship Some
Renal tubule structure Laterality Side true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Tubulointerstitial nephritis with uveitis syndrome (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Drug-induced tubulointerstitial nephritis (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Heavy-metal-induced tubulointerstitial nephritis (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Idiopathic interstitial tubulonephritis (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Chronic tubulointerstitial nephritis Finding site True Renal tubule structure Inferred relationship Some 2
Infantile nephropathic cystinosis Finding site True Renal tubule structure Inferred relationship Some 2
Cis-platinum nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
Hypokalemic nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
Bartter syndrome (disorder) Finding site False Renal tubule structure Inferred relationship Some 2
Familial hypokalemic and hypomagnesemic tubulopathy Finding site False Renal tubule structure Inferred relationship Some 2
A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified. Finding site True Renal tubule structure Inferred relationship Some 2
Idiopathic acute tubulointerstitial nephritis (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Analgesic nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
Bartter syndrome antenatal type 1 (disorder) Finding site False Renal tubule structure Inferred relationship Some 2
Bartter syndrome antenatal type 2 (disorder) Finding site False Renal tubule structure Inferred relationship Some 2
Bartter syndrome type 3 (disorder) Finding site False Renal tubule structure Inferred relationship Some 2
Bartter syndrome type 4 Finding site False Renal tubule structure Inferred relationship Some 2
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Finding site False Renal tubule structure Inferred relationship Some 2
Acute on chronic tubulointerstitial nephritis (disorder) Finding site False Renal tubule structure Inferred relationship Some 1
Bartter syndrome type 4a (disorder) Finding site False Renal tubule structure Inferred relationship Some 2
A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q. Finding site False Renal tubule structure Inferred relationship Some 2
Hereditary tubulointerstitial disorder Finding site True Renal tubule structure Inferred relationship Some 2
Lowe syndrome Finding site True Renal tubule structure Inferred relationship Some 2
Idiopathic chronic tubulointerstitial nephritis Finding site True Renal tubule structure Inferred relationship Some 2
Familial interstitial nephritis Finding site False Renal tubule structure Inferred relationship Some 3
Toxoplasma tubulointerstitial nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. Finding site True Renal tubule structure Inferred relationship Some 3
Renal tubular dysgenesis due to twin to twin transfusion Finding site True Renal tubule structure Inferred relationship Some 1
Renal tubular dysgenesis caused by drug Finding site True Renal tubule structure Inferred relationship Some 1
Acute tubulo-interstitial nephritis due to immunological disorder Finding site True Renal tubule structure Inferred relationship Some 2
Toxic acute tubular necrosis Finding site True Renal tubule structure Inferred relationship Some 1
Acute tubular necrosis due to ischemia and caused by toxin Finding site False Renal tubule structure Inferred relationship Some 1
Chronic tubulointerstitial nephritis following renal transplantation (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Chronic tubulo-interstitial nephritis due to connective tissue disorder Finding site True Renal tubule structure Inferred relationship Some 2
Chronic tubulointerstitial nephritis due to ischaemia Finding site True Renal tubule structure Inferred relationship Some 2
Chronic tubulointerstitial nephritis due to neoplastic disease (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Chronic tubulointerstitial nephritis due to metabolic disease (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. Finding site True Renal tubule structure Inferred relationship Some 5
Diphtheritic renal tubular necrosis Finding site True Renal tubule structure Inferred relationship Some 3
A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis. Finding site True Renal tubule structure Inferred relationship Some 2
Renal tubulo-interstitial disorder due to cystinosis (disorder) Finding site True Renal tubule structure Inferred relationship Some 2
A rare genetic disease characterised by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalised hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesaemia, hypokalaemia, hypercalcaemia, and hypocalciuria. Finding site True Renal tubule structure Inferred relationship Some 7
Chronic lead nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
Chronic mercury nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
Chronic tubulointerstitial nephritis caused by heavy metal Finding site True Renal tubule structure Inferred relationship Some 2
Chronic cadmium nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
Saturnine nephropathy Finding site True Renal tubule structure Inferred relationship Some 2
A rare genetic disease characterized by the association of Fanconi syndrome and nephrocalcinosis in addition to neonatal hyperinsulinism and macrosomia. Patients display a phenotype of proximal tubulopathy characterized by generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia, and additional features not normally seen in Fanconi syndrome (apart from nephrocalcinosis), namely renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. Finding site True Renal tubule structure Inferred relationship Some 3
Acute tubular necrosis due to ischemia Finding site True Renal tubule structure Inferred relationship Some 1
Familial interstitial nephritis Finding site True Renal tubule structure Inferred relationship Some 2
Acute on chronic tubulointerstitial nephritis (disorder) Finding site True Renal tubule structure Inferred relationship Some 3
A rare genetic renal disease with characteristics of slowly progressive chronic tubulointerstitial nephritis leading to end-stage renal disease before the age of 50 years. The disease manifests mild proteinuria, glucosuria and occasionally urinary sediment abnormalities. Mild extrarenal manifestations such as recurrent upper respiratory tract infections and abnormal liver function tests may be associated. Renal biopsy reveals severe chronic interstitial fibrosis and tubular changes as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged hyperchromatic nuclei. Caused by homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q. Finding site True Renal tubule structure Inferred relationship Some 3
Chronic infective interstitial nephritis Finding site True Renal tubule structure Inferred relationship Some 2
A rare renal tubular disease characterised by hypomagnesaemia due to renal magnesium wasting, recurrent generalised seizures, mild to moderate intellectual disability, speech delay and obesity due to CNNM2 mutations. Most patients also manifest motor skill defects and hyperkinesia. Majority of the affected individuals do not exhibit brain anomalies. Finding site True Renal tubule structure Inferred relationship Some 6
A rare disorder of magnesium transport characterised by hypomagnesaemia due to renal wasting, leading to tetany, early-onset seizures, impaired psychomotor development, and moderate intellectual disability. Secondary hypocalcaemia and obesity are absent. Finding site True Renal tubule structure Inferred relationship Some 3
Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome and that can be associated with encephalopathy and psychiatric disorders. Finding site True Renal tubule structure Inferred relationship Some 4

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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