190948002: Defect in post-translational modification of lysosomal enzymes (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Defect in post-translational modification of lysosomal enzymes (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Defect in post-translational modification of lysosomal enzymes (disorder)
• \Congenital disease (disorder)\Inborn error of metabolism\Defect in post-translational modification of lysosomal enzymes (disorder)

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
293609015	Defect in post-translational modification of lysosomal enzymes	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
574592017	Defect in post-translational modification of lysosomal enzymes (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5716131000172117	défaut de la transformation post-traductionnelle des enzymes lysosomiaux	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4251481000172110	onvolledige posttranslationele modificatie van lysosomale enzymen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4251491000172113	onvolledige modificatie van lysosomale enzymen na translatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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