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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary disorder of the urinary system	Is a	Disorder of the urinary system	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 system structure (body structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cystinosis (disorder)	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 (disorder)	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	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 gout	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
Hereditary nephrogenic diabetes insipidus	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 (disorder)	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
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	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
Schmitt Gillenwater Kelly syndrome	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	Is a	True	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
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial vesicoureteral reflux (disorder)	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary hollow viscus myopathy	Is a	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome	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

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