716863007: Citrullinemia type II (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Citrullinaemia\Citrin deficiency\Citrullinaemia type II
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Citrin deficiency\Citrullinaemia type II
• \Metabolic disease\Hereditary metabolic disease\Citrullinaemia\Citrin deficiency\Citrullinaemia type II
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Citrullinaemia\Citrin deficiency\Citrullinaemia type II
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Citrullinaemia\Citrin deficiency\Citrullinaemia type II
• \Metabolic disease\Enzymopathy\Citrullinaemia\Citrin deficiency\Citrullinaemia type II
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Citrullinaemia\Citrin deficiency\Citrullinaemia type II

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
3307825017	Citrullinemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3307826016	Citrullinaemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3307827013	Adult onset citrin deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
3307828015	Adult onset type 2 citrullinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308289019	Adult onset type 2 citrullinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
3308290011	A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma.	en	Definition	Active	Case sensitive	SNOMED CT core
3308532017	A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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