95568003: Renal tubular disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder

\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder
\Finding of trunk structure (finding)\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Disorder of renal parenchyma (disorder)\Renal tubular disorder

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

158292016 Renal tubular disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

839748010 Renal tubular disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2022811000005111 Renal tubulær sygdom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Renal tubular disorder	Is a	interstitiel nefrit	false	Inferred relationship	Some
Renal tubular disorder	Associated morphology	Inflammation	false	Inferred relationship	Some
Renal tubular disorder	Finding site	Renal tubule structure	true	Inferred relationship	Some	1
Renal tubular disorder	Finding site	Structure of interstitial tissue of kidney	false	Inferred relationship	Some
Renal tubular disorder	Is a	Kidney disease	false	Inferred relationship	Some
Renal tubular disorder	Is a	Renal glomerulussygdom	false	Inferred relationship	Some
Renal tubular disorder	Is a	Disorder of renal parenchyma (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Arginine vasopressin resistance (disorder)	Is a	False	Renal tubular disorder	Inferred relationship	Some
Acute tubular necrosis	Is a	True	Renal tubular disorder	Inferred relationship	Some
Fanconi syndrome	Is a	True	Renal tubular disorder	Inferred relationship	Some
Abort med renal tubulær nekrose	Is a	False	Renal tubular disorder	Inferred relationship	Some
Armanni-Ebsteins fænomen	Is a	False	Renal tubular disorder	Inferred relationship	Some
Failed attempted abortion with renal tubular necrosis (disorder)	Is a	True	Renal tubular disorder	Inferred relationship	Some
Biliær malformation associeret med renal tubulær insufficiens	Associated with	False	Renal tubular disorder	Inferred relationship	Some	1
Renal tubular defect	Is a	True	Renal tubular disorder	Inferred relationship	Some
Tubulointerstitial nephritis (disorder)	Is a	True	Renal tubular disorder	Inferred relationship	Some
Inherited renal tubule insufficiency with cholestatic jaundice	Is a	True	Renal tubular disorder	Inferred relationship	Some
Renal tubular dysgenesis (disorder)	Is a	False	Renal tubular disorder	Inferred relationship	Some
A rare renal tubulopathy secondary to urinary tract infection (UTI) and/or urinary tract malformation (UTM) characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis, hyperkalemia and inappropriately high serum aldosterone concentration and clinically manifesting as dehydration, vomiting, and poor oral intake.	Is a	True	Renal tubular disorder	Inferred relationship	Some
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.	Is a	True	Renal tubular disorder	Inferred relationship	Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease.	Is a	True	Renal tubular 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	Renal tubular disorder	Inferred relationship	Some
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus.	Is a	True	Renal tubular disorder	Inferred relationship	Some
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.	Is a	True	Renal tubular disorder	Inferred relationship	Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome	Is a	False	Renal tubular disorder	Inferred relationship	Some
A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia.	Is a	True	Renal tubular disorder	Inferred relationship	Some
A rare genetic mitochondrial disease with characteristics of early-onset progressive renal failure, manifesting with hyperuricaemia, hyponatraemia, hypomagnesaemia, hypochloraemic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and in some pancytopenia. Caused by homozygous mutation in the SARS2 gene, which encodes mitochondrial seryl-tRNA synthetase on chromosome 19q13.2.	Is a	True	Renal tubular disorder	Inferred relationship	Some
A rare genetic mitochondrial DNA depletion syndrome characterised by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminaemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycaemia.	Is a	True	Renal tubular disorder	Inferred relationship	Some
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.	Is a	True	Renal tubular disorder	Inferred relationship	Some
Lowe syndrome	Is a	True	Renal tubular disorder	Inferred relationship	Some
Armanni-Ebstein kidney	Is a	True	Renal tubular disorder	Inferred relationship	Some
Bartter syndrome (disorder)	Is a	True	Renal tubular disorder	Inferred relationship	Some
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.	Is a	True	Renal tubular disorder	Inferred relationship	Some
Dent's disease (disorder)	Is a	True	Renal tubular disorder	Inferred relationship	Some
Secondary hypertension due to renal tubular disorder	Due to	True	Renal tubular disorder	Inferred relationship	Some	3
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.	Is a	True	Renal tubular disorder	Inferred relationship	Some
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.	Is a	True	Renal tubular disorder	Inferred relationship	Some
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.	Is a	True	Renal tubular disorder	Inferred relationship	Some
Miscarriage with renal tubular necrosis (disorder)	Is a	True	Renal tubular disorder	Inferred relationship	Some
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.	Is a	True	Renal tubular disorder	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
158292016	Renal tubular disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
839748010	Renal tubular disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2022811000005111	Renal tubulær sygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)