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 |
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