30287008: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)

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

\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\...

\Aminoacidemia\Hyperornithinemia\Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

\Disorder of the urea cycle metabolism\Disorder of ornithine metabolism\Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
\Disorder of the urea cycle metabolism\Hyperornithinemia\Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
\Disorder of the urea cycle metabolism\Hyperammonemia\Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperornithinemia\Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

50692013 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

484534018 Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

761274013 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1216334015 HHH - Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

1217833013 HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

877751000172116 déficit en ORNT1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

956391000172116 syndrome d'hyperornithinémie-hyperammoniémie-homocitrullinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

901881000172114 hyperornithinemie, hyperammoniëmie, homocitrullinurie-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

974291000172117 HHH (hyperornithinemie, hyperammoniëmie, homocitrullinurie)-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	Hyperammonemia	true	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	Disorder of ornithine metabolism	true	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	Hyperornithinemia	true	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets