360376008: Functional defects of methionine synthase (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\Functional defects of methionine synthase

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

476118018 Functional defects of methionine synthase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

740096014 Functional defects of methionine synthase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6193061000241117 déficit fonctionnel en méthionine synthase 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
Functional defects of methionine synthase	Is a	Disorder of sulphur-bearing amino acid metabolism	true	Inferred relationship	Some
Functional defects of methionine synthase	Finding site	Body system structure	false	Inferred relationship	Some
Functional defects of methionine synthase	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Deficiency of Cobalamin E (disorder)	Is a	True	Functional defects of methionine synthase	Inferred relationship	Some
Deficiency of Cobalamin G (disorder)	Is a	True	Functional defects of methionine synthase	Inferred relationship	Some
Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).	Is a	True	Functional defects of methionine synthase	Inferred relationship	Some

Reference Sets