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30287008: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (disorder)


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
5286802011 SLC25A15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5286803018 Solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5286804012 SLC25A15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5286805013 Solute carrier family 25 member 15-gene related hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

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
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Is a Disorder of the central nervous system (disorder) true Inferred relationship Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Occurrence Congenital true Inferred relationship Some 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Finding site Structure of central nervous system (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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