367591000119105: Hereditary nephropathy (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of 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:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lowe syndrome	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance.	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Diffuse mesangial sclerosis with ocular abnormalities	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal dysplasia and retinal aplasia	Is a	False	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubular acidosis with progressive nerve deafness	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bartter syndrome (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephropathy, deafness, hyperparathyroidism syndrome	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Encephalopathy, hypertrophic cardiomyopathy, renal tubular disease syndrome	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
MARCH syndrome	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified.	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral ventriculomegaly, cystic kidney disease	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Nephronophthisis	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital vertebral, cardiac, renal anomalies syndrome (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary xanthinuria (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial juvenile hyperuricemic nephropathy (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder)	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal tubulopathy with encephalopathy and liver failure syndrome	Is a	True	Hereditary nephropathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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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
3012593013	Hereditary nephropathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
5632901000241118	néphropathie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5632901000241118	néphropathie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module