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106000008: Metabolic renal disease (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
170419012 Metabolic renal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
577092016 Metabolic renal disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1219190018 Metabolic disorders of the kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
145451000077116 maladie métabolique du rein fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

114 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metabolic renal disease Is a Metabolic disease true Inferred relationship Some
Metabolic renal disease Is a Kidney disease true Inferred relationship Some
Metabolic renal disease Finding site Kidney structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Cystinosis Is a False Metabolic renal disease Inferred relationship Some
Urate nephropathy Is a True Metabolic renal disease Inferred relationship Some
Deficiency of xanthine oxidase Is a True Metabolic renal disease Inferred relationship Some
Primary hyperoxaluria (disorder) Is a True Metabolic renal disease Inferred relationship Some
Hypercalcemic nephropathy Is a True Metabolic renal disease Inferred relationship Some
Renal glucosuria Is a False Metabolic renal disease Inferred relationship Some
Secondary oxalosis Is a True Metabolic renal disease Inferred relationship Some
Cholemic nephrosis Is a True Metabolic renal disease Inferred relationship Some
Hypokalemic nephropathy Is a True Metabolic renal disease Inferred relationship Some
Hypoxic nephrosis Is a True Metabolic renal disease Inferred relationship Some
Lowe syndrome Is a True Metabolic renal disease Inferred relationship Some
Renal phosphaturia Is a True Metabolic renal disease Inferred relationship Some
Hyperoxaluria Is a True Metabolic renal disease Inferred relationship Some
Kidney crystallization Is a True Metabolic renal disease Inferred relationship Some
Volume excess, primary renal sodium retention Is a False Metabolic renal disease Inferred relationship Some
Histidine transport defect Is a True Metabolic renal disease Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Metabolic renal disease Inferred relationship Some
Infantile nephropathic cystinosis Is a True Metabolic renal disease Inferred relationship Some
Neutral 1 amino acid transport defect Is a True Metabolic renal disease Inferred relationship Some
Dysmorphic sialidosis with renal involvement Is a True Metabolic renal disease Inferred relationship Some
Renal secondary osteodystrophia fibrosa Is a True Metabolic renal disease Inferred relationship Some
Familial hypokalemic alkalosis, Gullner type Is a True Metabolic renal disease Inferred relationship Some
Renal hemosiderosis Is a True Metabolic renal disease Inferred relationship Some
Iminoglycinuria Is a True Metabolic renal disease Inferred relationship Some
Cystinuria Is a True Metabolic renal disease Inferred relationship Some
Salt-wasting syndrome of infancy Is a True Metabolic renal disease Inferred relationship Some
Hyperkalemia, diminished renal excretion Is a True Metabolic renal disease Inferred relationship Some
Renal carnitine transport defect Is a True Metabolic renal disease Inferred relationship Some
Fanconi syndrome Is a True Metabolic renal disease Inferred relationship Some
Milk alkali syndrome Is a True Metabolic renal disease Inferred relationship Some
Familial methionine malabsorption Is a True Metabolic renal disease Inferred relationship Some
Nephrocalcinosis Is a True Metabolic renal disease Inferred relationship Some
Isolated familial renal hypomagnesemia Is a True Metabolic renal disease Inferred relationship Some
Fabry's disease Is a True Metabolic renal disease Inferred relationship Some
Renal tubular acidosis Is a True Metabolic renal disease Inferred relationship Some
Arginine vasopressin resistance (disorder) Is a False Metabolic renal disease Inferred relationship Some
Dibasic aminoaciduria Is a True Metabolic renal disease Inferred relationship Some
Glycinuria Is a True Metabolic renal disease Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Metabolic renal disease Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Metabolic renal disease Inferred relationship Some
Renal medullary washout (disorder) Is a True Metabolic renal disease Inferred relationship Some
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Is a True Metabolic renal disease 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 Metabolic renal disease Inferred relationship Some
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Is a True Metabolic renal disease Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a True Metabolic renal disease 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 Metabolic renal disease Inferred relationship Some
Renal hypocalciuria (disorder) Is a True Metabolic renal disease Inferred relationship Some
Lipoprotein glomerulopathy (disorder) Is a True Metabolic renal disease Inferred relationship Some
Bartter syndrome (disorder) Is a True Metabolic renal disease Inferred relationship Some
A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic 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. Is a True Metabolic renal disease Inferred relationship Some
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, 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 hypoglycemia. Is a True Metabolic renal disease Inferred relationship Some
Leigh-Syndrom mit nephrotischem Syndrom Is a False Metabolic renal disease Inferred relationship Some
A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). Is a True Metabolic renal disease Inferred relationship Some
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 Metabolic renal disease 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 Metabolic renal disease 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 Metabolic renal disease 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 Metabolic renal disease Inferred relationship Some
A rare genetic renal tubular disease characterized by hypomagnesemia (due to renal magnesium wasting), hypokalemia and activation of renin production due to specific mitochondrial DNA mutations. Hypocalciuria, metabolic alkalosis, progressive chronic kidney disease as well as arterial hypertension and hypercholesterolemia have been reported. Tetany, tremor, paresthesia, muscle fatigue, chondrocalcinosis and cerebral seizures can be present. Extrarenal manifestations of mitochondrial dysfunction may not be evident in the patients. Is a True Metabolic renal disease Inferred relationship Some

This concept is not in any reference sets

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