429735007: déficit en citrine (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\...

\Citrullinemia (disorder)\déficit en citrine

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\déficit en citrine

\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Citrullinemia (disorder)\déficit en citrine
\trouble métabolique\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Citrullinemia (disorder)\déficit en citrine
\trouble métabolique\Enzymopathy\Citrullinemia (disorder)\déficit en citrine
\trouble métabolique\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Citrullinemia (disorder)\déficit en citrine

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1001301000172116 déficit en citrine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
2689500017 Citrin deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2693127019 Citrin deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2695692018 Citrullinemia ll en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
2696096011 Citrullinaemia ll en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
676071000241113 déficit en citrine (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
déficit en citrine	est un(e) (attribut)	Enzymopathy	false	Inferred relationship	Some
déficit en citrine	est un(e) (attribut)	Disorder of the urea cycle metabolism	false	Inferred relationship	Some
déficit en citrine	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
déficit en citrine	est un(e) (attribut)	Citrullinemia (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Citrullinemia type II (disorder)	est un(e) (attribut)	True	déficit en citrine	Inferred relationship	Some
Neonatal intrahepatic cholestasis due to citrin deficiency (disorder)	Due to	True	déficit en citrine	Inferred relationship	Some	2

This concept is not in any reference sets