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63329001: Glycine dehydrogenase (decarboxylating) deficiency (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Glycine dehydrogenase (decarboxylating) deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Glycine dehydrogenase (decarboxylating) deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycine dehydrogenase (decarboxylating) deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Hyperglycinemia\Non-ketotic hyperglycinemia\Glycine dehydrogenase (decarboxylating) deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinemia\Glycine dehydrogenase (decarboxylating) deficiency
\Metabolic disease\Enzymopathy\Glycine dehydrogenase (decarboxylating) deficiency
\Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinemia\Glycine dehydrogenase (decarboxylating) deficiency

\Congenital disease\Inborn error of metabolism\Glycine dehydrogenase (decarboxylating) deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

105268016 Glycine dehydrogenase (decarboxylating) deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

105269012 Nonketotic hyperglycinemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

105270013 Glycine decarboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

105271012 P-protein deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

499553012 P protein deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

499554018 Glycine dehydrogenase decarboxylating deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

499555017 Nonketotic hyperglycinaemia, type I en Synonym Active Only initial character case insensitive SNOMED CT core module

499556016 Non-ketotic hyperglycinemia P protein deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

499557013 Non-ketotic hyperglycinemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

499558015 Non-ketotic hyperglycinaemia type I en Synonym Active Only initial character case insensitive SNOMED CT core module

499559011 Non-ketotic hyperglycinaemia P protein deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

802600017 Glycine dehydrogenase (decarboxylating) deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Enzymopathy	true	Inferred relationship	Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Non-ketotic hyperglycinemia	true	Inferred relationship	Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Glycine dehydrogenase (decarboxylating) deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency	Is a	Inborn error of metabolism	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
105268016	Glycine dehydrogenase (decarboxylating) deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
105269012	Nonketotic hyperglycinemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
105270013	Glycine decarboxylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
105271012	P-protein deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
499553012	P protein deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
499554018	Glycine dehydrogenase decarboxylating deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
499555017	Nonketotic hyperglycinaemia, type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
499556016	Non-ketotic hyperglycinemia P protein deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
499557013	Non-ketotic hyperglycinemia type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
499558015	Non-ketotic hyperglycinaemia type I	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
499559011	Non-ketotic hyperglycinaemia P protein deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
802600017	Glycine dehydrogenase (decarboxylating) deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module