429735007: Citrin deficiency (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Citrullinemia\Citrin deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Citrin deficiency

\Metabolic disease\Hereditary metabolic disease\Citrullinemia\Citrin deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Citrullinemia\Citrin deficiency
\Metabolic disease\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\Citrin deficiency
\Metabolic disease\Enzymopathy\Citrullinemia\Citrin deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Citrullinemia\Citrin deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

2689500017 Citrin deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2693127019 Citrin deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
2695692018 Citrullinemia ll en Synonym Inactive Only initial character case insensitive SNOMED CT core module
2696096011 Citrullinaemia ll en Synonym Inactive Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Citrin deficiency	Is a	Enzymopathy	false	Inferred relationship	Existential restriction modifier
Citrin deficiency	Is a	Disorder of the urea cycle metabolism	false	Inferred relationship	Existential restriction modifier
Citrin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Citrin deficiency	Is a	Citrullinemia	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Citrullinemia type II	Is a	True	Citrin deficiency	Inferred relationship	Existential restriction modifier
Neonatal intrahepatic cholestasis due to citrin deficiency	Due to	True	Citrin deficiency	Inferred relationship	Existential restriction modifier	2

This concept is not in any reference sets