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363338001: Hereditary disorder of the urinary system (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
482483016 Hereditary disorder of the urinary system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755150014 Hereditary disorder of the urinary system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
482483016 Hereditary disorder of the urinary system en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
482483016 Hereditary disorder of the urinary system en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
755150014 Hereditary disorder of the urinary system (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
755150014 Hereditary disorder of the urinary system (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6274171000241117 affection héréditaire de l'appareil urinaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6274181000241115 affection héréditaire du système urinaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6274171000241117 affection héréditaire de l'appareil urinaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6274181000241115 affection héréditaire du système urinaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


185 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the urinary system Is a Disorder of urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the urinary system Is a Hereditary disorder by system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disorder of the urinary system Finding site Urinary system structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Cystinosis Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Dibasic aminoaciduria Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of xanthine oxidase Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial amyloid nephropathy with urticaria AND deafness Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Fabry's disease Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Primary hyperoxaluria (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Renal carnitine transport defect Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
polykystose rénale autosomique dominante Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Melnick-Fraser syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Fanconi syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial methionine malabsorption Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial juvenile hyperuricemic nephropathy (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nephritis Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Tryptophan malabsorption syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
diabète insipide néphrogénique héréditaire Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Glycogenosis with glucoaminophosphaturia Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Histidine transport defect (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary tubulointerstitial disorder Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Neutral 1 amino acid transport defect Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Opitz-Frias syndrome Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Dysmorphic sialidosis with renal involvement Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypokalemic alkalosis, Gullner type (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Iminoglycinuria Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Cystinuria (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Renal phosphaturia Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Renal glycinuria, de Vries type Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hypophosphatemic bone disease Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Infantile nephropathic cystinosis Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nephritis Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial renal iminoglycinuria Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Dent's disease (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Lipoprotein glomerulopathy (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Nephroblastoma (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Drash syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Renal tubular dysgenesis (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Enamel-renal syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant progressive nephropathy with hypertension (disorder) Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Congenital nephrotic syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary nephropathy (disorder) Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypospadias of penis (disorder) Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hypospadias, hypertelorism, coloboma, deafness syndrome Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hypophosphatemic rickets with hypercalciuria (disorder) Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary hollow viscus myopathy Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Megacystis, microcolon, hypoperistalsis syndrome Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary arginine vasopressin resistance (disorder) Is a True Hereditary disorder of the urinary system Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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