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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
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Nephronophthisis hepatic fibrosis syndrome (disorder) est un(e) (attribut) 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) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Nephronophthisis hepatic fibrosis syndrome (disorder) morphologie associée (attribut) Fibrocystic change true Inferred relationship Some 2
Nephronophthisis hepatic fibrosis syndrome (disorder) morphologie associée (attribut) 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) survenue (attribut) congénital true Inferred relationship Some 1
Nephronophthisis hepatic fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of medulla of kidney true Inferred relationship Some 2
Nephronophthisis hepatic fibrosis syndrome (disorder) localisation d'une constatation (attribut) foie true Inferred relationship Some 1
Nephronophthisis hepatic fibrosis syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder true Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) est un(e) (attribut) Congenital hepatic fibrosis true Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) est un(e) (attribut) Nephronophthisis true Inferred relationship Some
Nephronophthisis hepatic fibrosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 3
Nephronophthisis hepatic fibrosis syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Nephronophthisis hepatic fibrosis syndrome (disorder) morphologie associée (attribut) Fibrosis false Inferred relationship Some 3
Nephronophthisis hepatic fibrosis syndrome (disorder) localisation d'une constatation (attribut) foie false Inferred relationship Some 3
Nephronophthisis hepatic fibrosis syndrome (disorder) morphologie associée (attribut) Fibrocystic change false Inferred relationship Some 4
Nephronophthisis hepatic fibrosis syndrome (disorder) localisation d'une constatation (attribut) Structure of medulla of kidney false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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