190724004: Disorder of glutamine metabolism (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glutamine metabolism

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

293150010 Disturbance of glutamine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2818112011 Disorder of glutamine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2818117017 Disorder of glutamine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

984831000172111 trouble de métabolisme de la glutamine fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of glutamine metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some
Disorder of glutamine metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of glutamine metabolism	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic neurometabolic disease characterized by early neonatal refractory seizures, hypotonia, and respiratory failure. Brain imaging reveals simplified gyral pattern of the frontal lobes, white matter abnormalities, gliosis and volume loss in various brain regions, and vasogenic edema. Serum glutamine levels are significantly elevated. Death occurs within weeks after birth.	Is a	True	Disorder of glutamine metabolism	Inferred relationship	Some
A rare genetic neurometabolic disease characterized by childhood onset of global developmental delay, progressive spastic ataxia leading to loss of independent ambulation, and elevated plasma levels of glutamine. Optic atrophy, tremor, and dysarthria have also been reported. Brain imaging may show cerebellar atrophy.	Is a	True	Disorder of glutamine metabolism	Inferred relationship	Some

Reference Sets