124507006: Deficiency of glutaminase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glutaminase

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

204576013 Deficiency of glutaminase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728209011 Deficiency of glutaminase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4774781000241118 déficit en glutaminase 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
Deficiency of glutaminase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glutaminase	Finding site	Body system structure	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.	Due to	True	Deficiency of glutaminase	Inferred relationship	Some	2
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.	Due to	True	Deficiency of glutaminase	Inferred relationship	Some	5

This concept is not in any reference sets