43123004: Hypermethioninemia (disorder)

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

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

71937014 Hypermethioninemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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 Only initial character 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

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
Hypermethioninaemia	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypermethioninaemia	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypermethioninaemia	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal hypermethioninemia	Is a	True	Hypermethioninaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hepatic methionine adenosyltransferase deficiency	Is a	True	Hypermethioninaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency	Is a	True	Hypermethioninaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Is a	True	Hypermethioninaemia	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypermethioninaemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterised by persistent hypermethioninaemia 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, hypoglycaemia 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	Hypermethioninaemia	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets