67845009: Aminomethyltransferase deficiency (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Aminomethyltransferase deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Aminomethyltransferase deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Aminomethyltransferase 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\Aminomethyltransferase 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\Aminomethyltransferase deficiency
• \Metabolic disease\Enzymopathy\Aminomethyltransferase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidemia\Aminoacidemia\Hyperglycinemia\Non-ketotic hyperglycinemia\Aminomethyltransferase deficiency
• \Congenital disease\Inborn error of metabolism\Aminomethyltransferase 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
112699014	Aminomethyltransferase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
112700010	T-protein deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
112701014	Tetrahydrofolate aminomethyltransferase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
112702019	Nonketotic hyperglycinemia, type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
500856011	T protein deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
500857019	Nonketotic hyperglycinaemia, type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
500858012	Non-ketotic hyperglycinemia T protein deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
500859016	Non-ketotic hyperglycinemia type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
500860014	Non-ketotic hyperglycinaemia T protein deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
500861013	Non-ketotic hyperglycinaemia type II	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
807614010	Aminomethyltransferase deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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