818952002: Fibronectin glomerulopathy (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy\Fibronectin glomerulopathy

\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Kidney finding\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Fibronectin glomerulopathy
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of retroperitoneum\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Hereditary nephropathy\Fibronectin glomerulopathy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Disorder of kidney and/or ureter\Kidney disease\Disorder of renal parenchyma\Glomerular disease\Fibronectin glomerulopathy
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Hereditary disorder of the urinary system\Hereditary nephropathy\Fibronectin glomerulopathy

Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3856295011 Fibronectin glomerulopathy en Synonym Active Case insensitive SNOMED CT core

3856296012 Glomerulopathy with fibronectin deposits en Synonym Active Case insensitive SNOMED CT core

3856297015 Fibronectin glomerulopathy (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3856298013 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. en Definition Active Case sensitive SNOMED CT core

3856299017 A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic haematuria 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. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fibronectin glomerulopathy	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Fibronectin glomerulopathy	Is a	Hereditary nephropathy	true	Inferred relationship	Some
Fibronectin glomerulopathy	Is a	Renal disorders in inherited disease	false	Inferred relationship	Some
Fibronectin glomerulopathy	Is a	Glomerular disease	true	Inferred relationship	Some
Fibronectin glomerulopathy	Finding site	Glomerulus structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Glomerulopathy with giant fibrillar deposits	Is a	True	Fibronectin glomerulopathy	Inferred relationship	Some
Glomerulopathy with fibronectin deposits 2	Is a	True	Fibronectin glomerulopathy	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3856295011	Fibronectin glomerulopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
3856296012	Glomerulopathy with fibronectin deposits	en	Synonym	Active	Case insensitive	SNOMED CT core
3856297015	Fibronectin glomerulopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3856298013	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.	en	Definition	Active	Case sensitive	SNOMED CT core
3856299017	A primary glomerular disease with characteristics of proteinuria, type IV renal tubular acidosis, microscopic haematuria 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.	en	Definition	Active	Case sensitive	SNOMED CT core