1187548001: Peroxisome biogenesis disorder due to PEX5 mutation (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX5 mutation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX5 mutation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX5 mutation
• \Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX5 mutation

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2022. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674127011	PEX5 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4674522014	Peroxisome biogenesis disorder due to PEX5 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4674523016	Peroxisome biogenesis disorder due to PEX5 mutation	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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