FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

723360007: Familial hypercholanemia (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\Familial hypercholanemia

\Digestive system finding\Liver finding\Disorder of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Familial hypercholanemia
\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\Familial hypercholanemia

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Familial hypercholanemia
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Familial hypercholanemia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypercholanemia
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\Synthetic defect of bile acids\Familial hypercholanemia
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\Synthetic defect of bile acids\Familial hypercholanemia
\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\Familial hypercholanemia
\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\Familial hypercholanemia
\Disease\Familial disease\Familial hypercholanemia
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Familial hypercholanemia
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia
\Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Synthetic defect of bile acids\Familial hypercholanemia
\Disease\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Familial hypercholanemia

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

Descriptions:

Id Description Lang Type Status Case? Module

3424230014 Familial hypercholanemia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3424231013 Familial hypercholanemia en Synonym Active Entire term case insensitive SNOMED CT core module

3424232018 Hereditary hypercholanemia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholanemia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Familial hypercholanemia	Is a	Familial disease	true	Inferred relationship	Existential restriction modifier
Familial hypercholanemia	Is a	Metabolic and genetic disorder affecting the liver	false	Inferred relationship	Existential restriction modifier
Familial hypercholanemia	Is a	Synthetic defect of bile acids	true	Inferred relationship	Existential restriction modifier
Familial hypercholanemia	Is a	Digestive system hereditary disorder	false	Inferred relationship	Existential restriction modifier
Familial hypercholanemia	Finding site	Liver structure	true	Inferred relationship	Existential restriction modifier	1
Familial hypercholanemia	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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3424230014	Familial hypercholanemia (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3424231013	Familial hypercholanemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3424232018	Hereditary hypercholanemia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module