763720007: Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hypermethioninaemia due to deficiency of glycine N-methyltransferase
• \Metabolic disease\Organic acid metabolism disorder\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulfur-bearing amino acid metabolism\Hypermethioninaemia\Hypermethioninaemia due to deficiency of glycine N-methyltransferase
• \Congenital disease\Hypermethioninaemia due to deficiency of glycine N-methyltransferase

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3643478017	Hypermethioninemia due to deficiency of glycine N-methyltransferase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643479013	Hypermethioninaemia due to GNMT (glycine N-methyltransferase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643480011	Hypermethioninemia due to GNMT (glycine N-methyltransferase) deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643481010	Hypermethioninemia due to deficiency of glycine N-methyltransferase (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3643482015	Hypermethioninaemia due to deficiency of glycine N-methyltransferase	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643483013	Glycine N-methyltransferase deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3643484019	A rare genetic inborn error of metabolism characterised by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninaemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.	en	Definition	Active	Case sensitive	SNOMED CT core
3643485018	A rare genetic inborn error of metabolism characterized by a relatively benign clinical phenotype, with only mild to moderate hepatomegaly reported, in addition to laboratory studies revealing permanent, greatly increased hypermethioninemia, mild to moderate elevation of aminotransferases and highly elevated plasma S-adenosyl-methionine with normal S-adenosylhomocysteine and total homocysteine. The disease is caused by homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Strength reference set

Description inactivation indicator reference set

REPLACED BY association reference set

Back to Start