717187000: Nephronophthisis hepatic fibrosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Viscus structure finding (finding)\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Viscus structure finding (finding)\Nephronophthisis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Finding of trunk structure\Liver finding\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Nephronophthisis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Nephronophthisis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital anomaly of liver\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Disorder of body system\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Disorder of body system\Nephronophthisis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Lesion of liver\Hepatic fibrosis\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Disease of liver\Structural abnormality of liver (disorder)\Congenital anomaly of liver\Congenital hepatic fibrosis\Nephronophthisis hepatic fibrosis syndrome (disorder)
• \Disease\Disorder of trunk (disorder)\Nephronophthisis\Nephronophthisis hepatic fibrosis syndrome (disorder)

Status: current. Date: 31-Jul 2016

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3308629011	Boichis disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3308630018	Nephronophthisis hepatic fibrosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308636012	Nephronophthisis hepatic fibrosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308637015	Boichis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401505018	A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401506017	A rare ciliopathy characterised by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anaemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

US English

Congenital syphilitic hepatomegaly

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