9360008: hyperammoniëmie (aandoening)

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\Disorder of the urea cycle metabolism\Hyperammonemia

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

16419019 Hyperammonemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
16420013 Hyperammonemia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
16421012 Hyperammonaemia, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
510396013 Hyperammonaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
837368011 Hyperammonemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1530881000146114 hyperammoniëmie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1530891000146111 hyperammoniëmie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hyperammonemia	Is a	Disorder of the urea cycle metabolism	true	Inferred relationship	Some
Hyperammonemia	Occurrence	Congenital	false	Inferred relationship	Some
Hyperammonemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Transient hyperammonemia in infancy	Is a	True	Hyperammonemia	Inferred relationship	Some
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Is a	True	Hyperammonemia	Inferred relationship	Some
Hyperammonemia, type III	Is a	True	Hyperammonemia	Inferred relationship	Some
congenitale hyperammoniëmie type I (aandoening)	Is a	False	Hyperammonemia	Inferred relationship	Some
Ornithine carbamoyltransferase deficiency	Is a	True	Hyperammonemia	Inferred relationship	Some
Hyperammonemic encephalopathy (disorder)	Associated with	True	Hyperammonemia	Inferred relationship	Some	1
Hyperinsulinism and hyperammonemia syndrome (disorder)	Is a	True	Hyperammonemia	Inferred relationship	Some
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (disorder)	Due to	True	Hyperammonemia	Inferred relationship	Some	2

Reference Sets