238033007: 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

\Digestive system finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\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\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Disorder of cholesterol metabolism\Disorder of cholesterol catabolism\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Disorder of cholesterol catabolism\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
\Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

356786018 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

626857017 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4570895016 Congenital bile acid synthesis defect type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Is a	Disorder of cholesterol catabolism	true	Inferred relationship	Existential restriction modifier
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Is a	Synthetic defect of bile acids	true	Inferred relationship	Existential restriction modifier
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Finding site	Liver structure	true	Inferred relationship	Existential restriction modifier	1
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

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
356786018	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
626857017	3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4570895016	Congenital bile acid synthesis defect type 1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module