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\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glycine metabolism\Hyperglycinaemia\Non-ketotic hyperglycinaemia\Aminomethyltransferase deficiency
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Aminoacidaemia\Hyperglycinaemia\Non-ketotic hyperglycinaemia\Aminomethyltransferase deficiency
• \Metabolic disease\Enzymopathy\Aminomethyltransferase deficiency
• \Metabolic disease\Disorder of acid-base balance\Acidaemia\Aminoacidaemia\Hyperglycinaemia\Non-ketotic hyperglycinaemia\Aminomethyltransferase deficiency
• \Congenital disease\Inborn error of metabolism\Aminomethyltransferase deficiency

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
112699014	Aminomethyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
112700010	T-protein deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
112701014	Tetrahydrofolate aminomethyltransferase deficiency	en	Synonym	Active	Case insensitive	SNOMED CT core
112702019	Nonketotic hyperglycinemia, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
500856011	T protein deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
500857019	Nonketotic hyperglycinaemia, type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
500858012	Non-ketotic hyperglycinemia T protein deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
500859016	Non-ketotic hyperglycinemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
500860014	Non-ketotic hyperglycinaemia T protein deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
500861013	Non-ketotic hyperglycinaemia type II	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
807614010	Aminomethyltransferase deficiency (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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