1149103000: citrullinemie type 1 (aandoening)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Citrullinemia (disorder)\Citrullinemia type I (disorder)

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

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

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

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Late-onset citrullinemia type I	Is a	True	Citrullinemia type I (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4553945018	Citrullinaemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4553946017	Citrullinemia type I (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553947014	Citrullinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553948016	Citrullinemia type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4553949012	Citrullinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4553950012	Classic citrullinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4553951011	Classic citrullinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5287013019	ASS1-gene related citrullinemia type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5287014013	Argininosuccinate synthase 1-gene related citrullinemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5287015014	ASS1-gene related citrullinaemia type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5287016010	Argininosuccinate synthase 1-gene related citrullinaemia type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
12896151000146116	citrullinemie type I	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12966991000146118	citrullinemie type 1 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12967001000146111	citrullinemie type 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14579821000146110	citrullinemie type 1 gerelateerd aan deficiëntie van argininosuccinaatsynthase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14579831000146112	citrullinemie type 1 gerelateerd aan ASS-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14579841000146116	citrullinemie type 1 gerelateerd aan argininosuccinaatsynthetase-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core