719454003: Congenital bile acid synthesis defect type 3 (disorder)

SNOMED CT Concept\Clinical finding\...

\Viscus structure finding\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3

\Digestive system finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Digestive system finding\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Abdominal organ finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Finding of abdomen\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital bile acid synthesis defect type 3
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive organ\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of abdomen\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3
\Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Congenital bile acid synthesis defect type 3

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3316420016 Congenital bile acid synthesis defect type 3 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3316421017 Congenital bile acid synthesis defect type 3 en Synonym Active Entire term case insensitive SNOMED CT core module

3316422012 Oxysterol 7-alpha hydroxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital bile acid synthesis defect type 3	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital bile acid synthesis defect type 3	Is a	Synthetic defect of bile acids	true	Inferred relationship	Existential restriction modifier
Congenital bile acid synthesis defect type 3	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Congenital bile acid synthesis defect type 3	Finding site	Liver structure	true	Inferred relationship	Existential restriction modifier	1
Congenital bile acid synthesis defect type 3	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3316420016	Congenital bile acid synthesis defect type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3316421017	Congenital bile acid synthesis defect type 3	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316422012	Oxysterol 7-alpha hydroxylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module