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723360007: hypercholanémie familiale (trouble)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\constatation à propos d'un organe abdominal\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)

\Digestive system finding (finding)\constatation à propos du foie\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Familial hypercholanemia (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\affection abdominale\affection du foie\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\Familial disease\Familial hypercholanemia (disorder)
\Disease\trouble métabolique\troubles métaboliques et génétiques affectant le foie\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\trouble métabolique\Inborn error of metabolism\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\trouble métabolique\troubles du métabolisme des lipoprotéines et/ou des lipides\Disorder of lipid metabolism\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)
\Disease\Congenital disease\Inborn error of metabolism\défaut de synthèse des acides biliaires\Familial hypercholanemia (disorder)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial hypercholanemia (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Familial hypercholanemia (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Familial hypercholanemia (disorder)	est un(e) (attribut)	Familial disease	true	Inferred relationship	Some
Familial hypercholanemia (disorder)	est un(e) (attribut)	troubles métaboliques et génétiques affectant le foie	false	Inferred relationship	Some
Familial hypercholanemia (disorder)	est un(e) (attribut)	défaut de synthèse des acides biliaires	true	Inferred relationship	Some
Familial hypercholanemia (disorder)	est un(e) (attribut)	Digestive system hereditary disorder	false	Inferred relationship	Some
Familial hypercholanemia (disorder)	localisation d'une constatation (attribut)	foie	true	Inferred relationship	Some	1

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
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
759301000241118	hypercholanémie familiale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
899751000172119	hypercholanémie familiale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
940351000172112	hypercholanémie héréditaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core