717187000: Nephronophthisis hepatic fibrosis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\...

\Kidney finding\Renal mass\Cyst of kidney\Congenital renal cyst\Fibrocystic kidney disease\Boichis syndrome
\Kidney finding\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome
\Kidney finding\Kidney disease\Hereditary nephropathy\Nephronophthisis\Boichis syndrome
\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney\Congenital renal cyst\Fibrocystic kidney disease\Boichis syndrome
\Kidney finding\Kidney disease\Kidney lesion\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome
\Kidney finding\Kidney disease\Kidney lesion\Renal fibrosis\Fibrocystic kidney disease\Boichis syndrome
\Kidney finding\Kidney disease\Kidney lesion\Renal fibrosis\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome
\Kidney finding\Kidney disease\Disorder of renal parenchyma\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome
\Kidney finding\Kidney disease\Congenital anomaly of the kidney\Boichis syndrome

\Liver finding\Liver disease\...

\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Boichis syndrome

\Congenital anomaly of liver\Congenital hepatic fibrosis\Boichis syndrome

\Digestive system finding\Liver finding\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Boichis syndrome
\Digestive system finding\Liver finding\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Boichis syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Boichis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Boichis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Liver disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Boichis syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Boichis syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital abnormality of liver and/or biliary tract\Congenital anomaly of liver\Congenital hepatic fibrosis\Boichis syndrome

\Mass of body structure\Mass of body region\Mass of trunk\...

\Mass of urogenital structure\Mass of urinary tract structure\Renal mass\Cyst of kidney\...

\Congenital renal cyst\Fibrocystic kidney disease\Boichis syndrome

\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome

\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Fibrocystic kidney disease\Boichis syndrome
\Abdominal mass\Cyst of abdomen\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome
\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Congenital renal cyst\Fibrocystic kidney disease\Boichis syndrome
\Abdominal mass\Retroperitoneal mass\Renal mass\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome
\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Congenital renal cyst\Fibrocystic kidney disease\Boichis syndrome
\Abdominal mass\Retroperitoneal mass\Retroperitoneal cyst\Cyst of kidney\Medullary cystic kidney disease\Nephronophthisis - medullary cystic disease\Nephronophthisis\Boichis syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3308629011 Boichis disease en Synonym Active Case sensitive SNOMED CT core

3308630018 Nephronophthisis hepatic fibrosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3308636012 Nephronophthisis hepatic fibrosis syndrome en Synonym Active Case insensitive SNOMED CT core

3308637015 Boichis syndrome en Synonym Active Case sensitive SNOMED CT core

3308638013 This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Boichis syndrome	Is a	Fibrocystic kidney disease	true	Inferred relationship	Some
Boichis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Boichis syndrome	Is a	Congenital anomaly of the kidney	true	Inferred relationship	Some
Boichis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Boichis syndrome	Associated morphology	Fibrocystic change	true	Inferred relationship	Some	2
Boichis syndrome	Associated morphology	Fibrosis	true	Inferred relationship	Some	1
Boichis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Boichis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Boichis syndrome	Finding site	Structure of medulla of kidney	true	Inferred relationship	Some	2
Boichis syndrome	Finding site	Liver structure	true	Inferred relationship	Some	1
Boichis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Boichis syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
Boichis syndrome	Is a	Congenital hepatic fibrosis	true	Inferred relationship	Some
Boichis syndrome	Is a	Nephronophthisis	true	Inferred relationship	Some
Boichis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Boichis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Boichis syndrome	Associated morphology	Fibrosis	false	Inferred relationship	Some	3
Boichis syndrome	Finding site	Liver structure	false	Inferred relationship	Some	3
Boichis syndrome	Associated morphology	Fibrocystic change	false	Inferred relationship	Some	4
Boichis syndrome	Finding site	Structure of medulla of kidney	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

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
3308629011	Boichis disease	en	Synonym	Active	Case sensitive	SNOMED CT core
3308630018	Nephronophthisis hepatic fibrosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3308636012	Nephronophthisis hepatic fibrosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3308637015	Boichis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3308638013	This syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.	en	Definition	Active	Case sensitive	SNOMED CT core