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717187000: Nephronophthisis hepatic fibrosis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

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
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
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 Only initial character case insensitive (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 Only initial character 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 Active 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
3440051001000118 Senior-Boichis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440051001000118 Senior-Boichis-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Boichis syndrome Is a Congenital hepatic fibrosis true Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Is a Nephronophthisis true Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Boichis syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Boichis syndrome Associated morphology Fibrosis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Boichis syndrome Finding site Liver structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Boichis syndrome Associated morphology Fibrocystic change false Inferred relationship Existential restriction modifier (core metadata concept) 4
Boichis syndrome Finding site Structure of medulla of kidney false Inferred relationship Existential restriction modifier (core metadata concept) 4
Boichis syndrome Is a Fibrocystic kidney disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Boichis syndrome Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Boichis syndrome Associated morphology Fibrocystic change true Inferred relationship Existential restriction modifier (core metadata concept) 2
Boichis syndrome Associated morphology Fibrosis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Boichis syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Boichis syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Boichis syndrome Finding site Structure of medulla of kidney true Inferred relationship Existential restriction modifier (core metadata concept) 2
Boichis syndrome Finding site Liver structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Boichis syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Boichis syndrome Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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