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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

0 descendants.

Expanded Value Set

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

Reference Sets

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

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