1149103000: Citrullinemia type I (disorder)

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

Status: current, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4553945018	Citrullinaemia type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
4553946017	Citrullinemia type I (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4553947014	Citrullinemia type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4553948016	Citrullinemia type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
4553949012	Citrullinaemia type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4553950012	Classic citrullinemia	en	Synonym	Active	Case insensitive	SNOMED CT core
4553951011	Classic citrullinaemia	en	Synonym	Active	Case insensitive	SNOMED CT core
4553952016	A rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the ASS1 gene on chromosome 9q34.	en	Definition	Active	Case sensitive	SNOMED CT core
4553953014	A rare autosomal recessive urea cycle defect characterised biologically by hyperammonaemia and clinically by progressive lethargy, poor feeding and vomiting. There is evidence that this disease is caused by homozygous or compound heterozygous mutation in the ASS1 gene on chromosome 9q34.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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