1156826003: Infantile glycine encephalopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile glycine encephalopathy (disorder)

\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Hyperglycinemia\Non-ketotic hyperglycinaemia\Infantile glycine encephalopathy (disorder)
\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Infantile glycine encephalopathy (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidaemia\Hyperglycinemia\Non-ketotic hyperglycinaemia\Infantile glycine encephalopathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile glycine encephalopathy (disorder)	Occurrence	Infancy	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Infantile glycine encephalopathy (disorder)	Is a	Non-ketotic hyperglycinaemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile glycine encephalopathy (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal glycine encephalopathy (disorder)	Is a	True	Infantile glycine encephalopathy (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4576275010	Infantile glycine encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576277019	Infantile glycine encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4579183014	Infantile non-ketotic hyperglycinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4579184015	Infantile non-ketotic hyperglycinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576275010	Infantile glycine encephalopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576277019	Infantile glycine encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4579183014	Infantile non-ketotic hyperglycinaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4579184015	Infantile non-ketotic hyperglycinemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6317551000241114	encéphalopathie glycinique chez le nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6317561000241112	hyperglycinémie non cétosique chez le nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6317571000241116	hyperglycinémie non cétosique chez le bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6317551000241114	encéphalopathie glycinique chez le nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6317561000241112	hyperglycinémie non cétosique chez le nourrisson	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6317571000241116	hyperglycinémie non cétosique chez le bébé de moins d'un an	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module