363338001: Hereditary disorder of the urinary system (disorder)

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

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of the urinary system	Is a	Disorder of urinary system (disorder)	true	Inferred relationship	Some
Hereditary disorder of the urinary system	Is a	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of the urinary system	Finding site	Urinary tract includes entire kidney and the urinary tract proper which relate to the ureter, bladder and urethra.	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cystinosis	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Dibasic aminoaciduria	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Deficiency of xanthine oxidase	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial amyloid nephropathy with urticaria AND deafness	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Fabry's disease	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Primary hyperoxaluria (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal carnitine transport defect	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
polykystose rénale autosomique dominante	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Melnick-Fraser syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Fanconi syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial methionine malabsorption	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial juvenile hyperuricemic nephropathy (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephritis	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Tryptophan malabsorption syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
diabète insipide néphrogénique héréditaire	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Histidine transport defect	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary tubulointerstitial disorder	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Lowe syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Neutral 1 amino acid transport defect	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Opitz-Frias syndrome	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial hypokalemic alkalosis, Gullner type	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Iminoglycinuria	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Cystinuria	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal phosphaturia	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal glycinuria, de Vries type	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Infantile nephropathic cystinosis	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephritis (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial renal iminoglycinuria	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Dent's disease (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Lipoprotein glomerulopathy (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Nephroblastoma	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Drash syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal tubular dysgenesis (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Enamel-renal syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Autosomal dominant progressive nephropathy with hypertension (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Congenital nephrotic syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephropathy (disorder)	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial hypospadias of penis (disorder)	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987.	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
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	Some
A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections.	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel	Is a	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Megacystis, microcolon, hypoperistalsis syndrome	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary vasopressin resistance	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some

This concept is not in any reference sets

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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
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