Code System Concept

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Code System Concept

Code System Concept Code	717155003
Code System Concept Name	Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)
Code System Preferred Concept Name	Neonatal intrahepatic cholestasis due to citrin deficiency (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Superseded By Concept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	Disorder with clinical characteristics of low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidaemia, galactosaemia, hypoproteinaemia, hepatomegaly, decreased coagulation factors, haemolytic anaemia, variable but mostly mild liver dysfunction and hypoglycaemia.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3308536019	Neonatal intrahepatic cholestasis due to citrin deficiency	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)

Cholestasis in newborn (disorder) {433237003 , SNOMED-CT } Disorder of bile duct (disorder) {118926004 , SNOMED-CT } Disorder of biliary tract (disorder) {105997008 , SNOMED-CT } Disorder of liver due to disorder of amino acid metabolism (disorder) {762278005 , SNOMED-CT } Intrahepatic cholestasis (finding) {4637005 , 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,