721225009: Homocystinuria without methylmalonic aciduria (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Homocystinuria without methylmalonic aciduria (disorder)
• \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\...
• \Functional defects of methionine synthase\Homocystinuria without methylmalonic aciduria (disorder)
• \Homocystinuria\Homocystinuria without methylmalonic aciduria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3324669011	Homocystinuria without methylmalonic aciduria (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324671011	Homocystinuria without methylmalonic aciduria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324672016	Functional methionine synthase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3324674015	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). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyzes remethylation of homocysteine to form methionine.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3324675019	An inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, 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). These disorders are caused by a functional deficiency of the cytoplasmic enzyme methionine synthase (MS), which catalyses remethylation of homocysteine to form methionine.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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