1296847007: methylcobalaminedeficiëntie type cbIE (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Homocystinuria without methylmalonic aciduria (disorder)\Methylcobalamin deficiency type cblE
• \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)\Methylcobalamin deficiency type cblE
• \Homocystinuria\Homocystinuria without methylmalonic aciduria (disorder)\Methylcobalamin deficiency type cblE

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Dec 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5287310013	Methylcobalamin deficiency type cblE	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5287311012	Methylcobalamin deficiency type cblE (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5287312017	Functional methionine synthase deficiency type cblE	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
14668651000146113	methylcobalaminedeficiëntie type cbIE	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14668661000146111	methylcobalaminedeficiëntie type cbIE (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start