43123004: hypermethioninemie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\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
71938016 Hypermethioninemia, NOS en Synonym (core metadata concept) Inactive 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 Entire term case insensitive (core metadata concept) SNOMED CT core
1531441000146111 hypermethioninemie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
1531451000146114 hypermethioninemie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder)	Is a	True	Hypermethioninemia	Inferred relationship	Some
Hypermethioninemia due to deficiency of glycine N-methyltransferase	Is a	True	Hypermethioninemia	Inferred relationship	Some
Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (disorder)	Is a	True	Hypermethioninemia	Inferred relationship	Some

This concept is not in any reference sets