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715577009: Low phospholipid associated cholelithiasis (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
3303070010 Low phospholipid associated cholelithiasis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303071014 Low phospholipid associated cholelithiasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303072019 Cholelithiasis with ABCB4 gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5400980011 A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400981010 A rare genetic hepatic disease characterised by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3303070010 Low phospholipid associated cholelithiasis (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303070010 Low phospholipid associated cholelithiasis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303071014 Low phospholipid associated cholelithiasis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303071014 Low phospholipid associated cholelithiasis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3303072019 Cholelithiasis with ABCB4 gene mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3303073012 The association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. Patients present typically with the following main features: age less than 40 years at onset of symptoms, recurrence of biliary symptoms after cholecystectomy, intrahepatic hyperechoic foci or sludge or microlithiasis along the biliary tree. A defect in ABCB4 function causes the production of bile with low phospholipid content, increased lithogenicity and high detergent properties leading to bile duct luminal membrane injuries and resulting in cholestasis with increased serum gamma-glutamyltransferase (GGT) activity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400980011 A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400981010 A rare genetic hepatic disease characterised by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3418521001000112 Cholelithiasis mit niedrigen Phospholipid-Spiegeln de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
905601000172119 lithiase biliaire à faible niveau de phospholipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970931000172115 cholélithiase par mutation du gène ABCB4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
905601000172119 lithiase biliaire à faible niveau de phospholipides fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
970931000172115 cholélithiase par mutation du gène ABCB4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3418521001000112 Cholelithiasis mit niedrigen Phospholipid-Spiegeln 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
A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. Is a Biliary calculus true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. Associated morphology Calculus true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic hepatic disease characterized by low biliary phospholipid concentration with symptomatic and recurring cholelithiasis which develops before the age of 40 years. Finding site Biliary tract structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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