Code System Concept

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Code System Concept

Code System Concept Code	715577009
Code System Concept Name	Low phospholipid associated cholelithiasis (disorder)
Code System Preferred Concept Name	Low phospholipid associated cholelithiasis (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3303071014	Low phospholipid associated cholelithiasis	Active	Synonym	false	false
3303072019	Cholelithiasis with ABCB4 gene mutation	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Calculus in biliary tract (disorder) {266474003 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,