363338001: Hereditary disorder of the urinary system (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\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	est un(e) (attribut)	Disorder of the urinary system	true	Inferred relationship	Some
Hereditary disorder of the urinary system	est un(e) (attribut)	Hereditary disorder by system	true	Inferred relationship	Some
Hereditary disorder of the urinary system	localisation d'une constatation (attribut)	Urinary system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Megacystis, microcolon, hypoperistalsis syndrome	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Deficiency of xanthine oxidase	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Autosomal dominant hypophosphataemic bone disease	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
néphropathie amyloïde familiale avec urticaire et surdité	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Fabry's disease	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Primary hyperoxaluria	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal carnitine transport defect	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Cystinosis	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Polycystic kidney disease, adult type	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Melnick-Fraser syndrome	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Fanconi syndrome	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial methionine malabsorption	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
goutte juvénile familiale	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephritis (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephritis (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Tryptophan malabsorption syndrome (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephrogenic diabetes insipidus	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Histidine transport defect	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary tubulointerstitial disorder	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Lowe syndrome	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Neutral 1 amino acid transport defect	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Opitz-Frias syndrome	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
alcalose hypokaliémique familiale de type Gullner	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Iminoglycinuria	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Cystinuria	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal phosphaturia	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal glycinuria, de Vries type	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Dent's disease (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Lipoprotein glomerulopathy (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
néphroblastome	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Drash syndrome	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Renal tubular dysgenesis (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
syndrome amélogenèse imparfaite-néphrocalcinose	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Autosomal dominant progressive nephropathy with hypertension (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Congenital nephrotic syndrome (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Dibasic aminoaciduria	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary nephropathy (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
syndrome d'hypospadias-déficience intellectuelle type Goldblatt	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial hypospadias of penis (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Schmitt Gillenwater Kelly syndrome	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial hypomagnesemia hypercalciuria nephrocalcinosis with severe ocular involvement (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Hypospadias, hypertelorism, coloboma, deafness syndrome (disorder)	est un(e) (attribut)	False	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary hypophosphatemic rickets with hypercalciuria (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Familial vesicoureteral reflux (disorder)	est un(e) (attribut)	True	Hereditary disorder of the urinary system	Inferred relationship	Some
Hereditary hollow viscus myopathy	est un(e) (attribut)	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