43123004: Hypermethioninemia (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of sulphur-bearing amino acid metabolism\Hypermethioninemia

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

Descriptions:

Id Description Lang Type Status Case? Module

71937014 Hypermethioninemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

493531016 Hypermethioninaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

780099018 Hypermethioninemia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4530621000241116 hyperméthioninémie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hypermethioninemia	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Hypermethioninemia	Occurrence	Congenital	false	Inferred relationship	Some
Hypermethioninemia	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal hypermethioninemia	Is a	True	Hypermethioninemia	Inferred relationship	Some
Hepatic methionine adenosyltransferase deficiency	Is a	True	Hypermethioninemia	Inferred relationship	Some
A rare, multisystemic inherited metabolic disease characterized clinically, by a variable spectrum of severity, primarily comprised of psychomotor delay, myopathy and liver dysfunction. Most patients present in infancy, but the onset can be already in utero or in adult age. Hypermethioninemia is frequent, but often absent in infancy. Creatine kinase is elevated in most patients.	Is a	True	Hypermethioninemia	Inferred relationship	Some
Hypermethioninemia due to glycine N-methyltransferase deficiency is 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.	Is a	True	Hypermethioninemia	Inferred relationship	Some
Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.	Is a	True	Hypermethioninemia	Inferred relationship	Some

This concept is not in any reference sets