237939006: Non-ketotic hyperglycinemia (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 glycine metabolism\Hyperglycinemia\Non-ketotic hyperglycinaemia

\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia

\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinaemia

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

356613013 Disorder of glycine cleavage enzyme complex en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356614019 NKH - Non-ketotic hyperglycinaemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356615018 Non-ketotic hyperglycinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

356616017 NKH - Non-ketotic hyperglycinemia en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356617014 Non-ketotic hyperglycinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626744019 Non-ketotic hyperglycinemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037061014 Non ketotic hyperglycinemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3037470016 Non ketotic hyperglycinaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5021121000241114 hyperglycémie non cétosique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3407821001000114 Glycin-Enzephalopathie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-ketotic hyperglycinaemia	Is a	Hyperglycinemia	true	Inferred relationship	Some
Non-ketotic hyperglycinaemia	Finding site	Body system structure	false	Inferred relationship	Some
Non-ketotic hyperglycinaemia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Non-ketotic hyperglycinemia H protein deficiency	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some
Non-ketotic hyperglycinaemia L protein deficiency	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some
Glycine dehydrogenase (decarboxylating) deficiency	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some
Aminomethyltransferase deficiency	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some
Childhood-onset spasticity with hyperglycinemia is a rare neurometabolic disease characterized by a childhood onset of progressive spastic ataxia associated with gait disturbances, hyperreflexia, extensor plantar responses and non-ketotic hyperglycinemia typically revealed by biochemical analysis. Additional signs of upper extremity spasticity, dysarthria, learning difficulties, poor concentration, nystagmus, optic atrophy and reduced visual acuity may also be associated.	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some
Infantile glycine encephalopathy (disorder)	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some
Atypical glycine encephalopathy	Is a	True	Non-ketotic hyperglycinaemia	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set