723360007: Familial hypercholanemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Viscus structure finding (finding)\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia (disorder)

\Finding of trunk structure\Liver finding\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypercholanemia (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Disease\Disorder of body system\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Disease\Disorder of trunk (disorder)\Disease of liver\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Disease\Familial disease\Familial hypercholanemia (disorder)
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Disease\Metabolic disease\Disorder of lipid metabolism\Synthetic defect of bile acids\Familial hypercholanemia (disorder)
\Disease\Metabolic disease\Metabolic and genetic disorder affecting the liver\Synthetic defect of bile acids\Familial hypercholanemia (disorder)

Status: current. Date: 31-Jul 2017

Descriptions:

Id Description Lang Type Status Case? Module

3424230014 Familial hypercholanemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424231013 Familial hypercholanemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424232018 Hereditary hypercholanemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424233011 A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42. en Definition Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5403012013 Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403013015 Familial hypercholanemia is a very rare genetic disorder characterised clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholanemia (disorder)	Is a	Familial disease	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Familial hypercholanemia (disorder)	Is a	Synthetic defect of bile acids	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Familial hypercholanemia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly
Familial hypercholanemia (disorder)	Occurrence	Congenital	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	1
Familial hypercholanemia (disorder)	Finding site	Liver structure	true	Congenital syphilitic hepatomegaly	Congenital syphilitic hepatomegaly	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 (core metadata concept)	SNOMED CT core
3424231013	Familial hypercholanemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424232018	Hereditary hypercholanemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424233011	A very rare genetic disorder with clinical characteristics of elevated serum bile acid concentrations, itching and fat malabsorption reported in patients of Old Order Amish descent. Can be caused by mutation in the TJP2 gene on chromosome 9q21, the BAAT gene on chromosome 9q31, or the EPHX1 gene on chromosome 1q42.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403012013	Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403013015	Familial hypercholanemia is a very rare genetic disorder characterised clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core