367591000119105: Hereditary nephropathy (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Hereditary nephropathy (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\constatation à propos d'un organe abdominal\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)
\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\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Hereditary nephropathy (disorder)
\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\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Hereditary nephropathy (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Hereditary nephropathy (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of the urinary system\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\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\Hereditary nephropathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3012593013 Hereditary nephropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3012627014 Hereditary nephropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3881056012 Inherited renal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3881057015 Hereditary disorder of kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary nephropathy (disorder)	est un(e) (attribut)	Kidney disease	true	Inferred relationship	Some
Hereditary nephropathy (disorder)	est un(e) (attribut)	Hereditary disorder of the urinary system	true	Inferred relationship	Some
Hereditary nephropathy (disorder)	localisation d'une constatation (attribut)	structure d'un rein	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
LAMB2-related infantile-onset nephrotic syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Drash syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Pierson syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital nephrotic syndrome due to diffuse mesangial sclerosis (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital nephrotic syndrome with focal glomerulosclerosis	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Galloway Mowat syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital nephrotic syndrome due to congenital infection (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
NPHP3-related Meckel-like syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Cystinuria, type 1	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
syndrome d'hyperuricémie, hypertension artérielle pulmonaire, insuffisance rénale, alcalose	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Mitochondrial DNA depletion syndrome hepatocerebrorenal form	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Karyomegalic interstitial nephritis (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Leigh syndrome with nephrotic syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Holzgreve syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Thin basement membrane disease	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Polycystic kidney disease, infantile type	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Inherited renal tubule insufficiency with cholestatic jaundice	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Inherited magnesium-losing nephropathy	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Saldino-Mainzer dysplasia	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary focal and segmental glomerular lesions	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary minor glomerular abnormality (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Oligohydramnios sequence	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Non-progressive hereditary glomerulonephritis (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Lowe syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Fibronectin glomerulopathy	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Diffuse mesangial sclerosis with ocular abnormalities	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Renal dysplasia and retinal aplasia	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
acidose tubulaire rénale avec surdité de perception progressive	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Bartter syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Nephropathy, deafness, hyperparathyroidism syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
MARCH syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Severe oculo-renal-cerebellar syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Gitelman syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Cerebral ventriculomegaly, cystic kidney disease	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Nephronophthisis	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Dent's disease (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Fabry's disease	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Primary hyperoxaluria	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Renal phosphaturia	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary diffuse crescentic glomerulonephritis	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary tubulointerstitial disorder	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Melnick-Fraser syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Dysmorphic sialidosis with renal involvement	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
iminoglycinurie rénale familiale	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Glycogenosis with glucoaminophosphaturia	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
alcalose hypokaliémique familiale de type Gullner	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Infantile nephropathic cystinosis	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Lipoprotein glomerulopathy (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary nephritis (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Renal carnitine transport defect	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
néphroblastome	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital nephrotic syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Renal tubular dysgenesis (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary nephrogenic diabetes insipidus	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
néphropathie amyloïde familiale avec urticaire et surdité	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Autosomal dominant progressive nephropathy with hypertension (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
syndrome amélogenèse imparfaite-néphrocalcinose	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hereditary papillary renal cell carcinoma (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Familial papillary thyroid carcinoma with renal papillary neoplasia syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Joubert syndrome with renal defect (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
syndrome néphrotique corticorésistant d'origine génétique (trouble)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Tubular renal disease with cardiomyopathy syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Renal dysplasia with limb defect syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Bartter syndrome type 4a (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Acrorenal mandibular syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Acrorenoocular syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Acrorenal syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hyperuricemia, anemia, renal failure syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Joubert syndrome with oculorenal defect (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Perlman syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Glomerulopathy with fibronectin deposits 2 (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Faciocardiorenal syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Nephrogenic syndrome of inappropriate antidiuresis (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Thymic, renal, anal, lung dysplasia syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Schimke immuno-osseous dysplasia (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Proximal tubulopathy, diabetes mellitus, cerebellar ataxia syndrome (disorder)	est un(e) (attribut)	False	Hereditary nephropathy (disorder)	Inferred relationship	Some
Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder)	est un(e) (attribut)	True	Hereditary nephropathy (disorder)	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
3012593013	Hereditary nephropathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3012627014	Hereditary nephropathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3881056012	Inherited renal disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3881057015	Hereditary disorder of kidney	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core