870313002: Perinatal lethal Gaucher disease (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Perinatal lethal Gaucher disease
• \Disorder of foetus and/or newborn\Perinatal disorder (disorder)\Perinatal endocrine and metabolic disorders\Perinatal lethal Gaucher disease
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Storage disease\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease
• \Metabolic disease\Enzymopathy\Lysosomal storage disease (disorder)\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid storage and metabolism\Sphingolipidosis\Gaucher's disease\Perinatal lethal Gaucher disease

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3968883014	Perinatal lethal Gaucher disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3968884015	Perinatal lethal Gaucher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3968883014	Perinatal lethal Gaucher disease (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3968884015	Perinatal lethal Gaucher disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6497761000241111	maladie de Gaucher périnatale létale	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6497761000241111	maladie de Gaucher périnatale létale	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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