716863007: Citrullinemia type II (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Citrullinemia (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Citrullinemia (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)
• \Metabolic disease\Hereditary metabolic disease\Citrullinemia (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Citrullinemia (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)
• \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 (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)
• \Metabolic disease\Enzymopathy\Citrullinemia (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Citrullinemia (disorder)\Citrin deficiency (disorder)\Citrullinemia type II (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307824018	Citrullinemia type II (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307825017	Citrullinemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307826016	Citrullinaemia type II	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3307827013	Adult onset citrin deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307828015	Adult onset type 2 citrullinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3308289019	Adult onset type 2 citrullinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401423011	A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401424017	A severe subtype of citrin deficiency characterised clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour (aggression, irritability, and hyperactivity), seizures, and coma.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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