1149103000: Citrullinemia type I (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Citrullinemia\Citrullinemia type I

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Citrullinemia type I

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4553945018 Citrullinaemia type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

4553946017 Citrullinemia type I (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

4553947014 Citrullinemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

4553948016 Citrullinemia type 1 en Synonym Active Entire term case insensitive SNOMED CT core module

4553949012 Citrullinaemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

4553950012 Classic citrullinemia en Synonym Active Entire term case insensitive SNOMED CT core module

4553951011 Classic citrullinaemia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Citrullinemia type I	Is a	Citrullinemia	true	Inferred relationship	Existential restriction modifier
Citrullinemia type I	Due to	Deficiency of argininosuccinate synthase	true	Inferred relationship	Existential restriction modifier	1
Citrullinemia type I	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets