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1149103000: 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:

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
5399246011 Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonemia in the later-onset form. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399247019 Citrullinaemia type I is a rare autosomal recessive urea cycle defect characterised biologically by hyperammonaemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonaemia in the later-onset form. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5399246011 Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonemia in the later-onset form. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5399247019 Citrullinaemia type I is a rare autosomal recessive urea cycle defect characterised biologically by hyperammonaemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form and by variable hyperammonaemia in the later-onset form. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429061001000114 Zitrullinämie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5847481000241110 citrullinémie de type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5847481000241110 citrullinémie de type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429061001000114 Zitrullinämie Typ 1 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Citrullinemia type I (disorder) Is a Citrullinemia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Citrullinemia type I (disorder) Due to Deficiency of argininosuccinate synthase true Inferred relationship Existential restriction modifier (core metadata concept) 1
Citrullinemia type I (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Late-onset citrullinemia type I Is a True Citrullinemia type I (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

Reference Sets

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

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