1187532002: Peroxisome biogenesis disorder due to PEX1 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 PEX1 mutation
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX1 mutation
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX1 mutation
• \Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\Peroxisome biogenesis disorder due to PEX1 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
4674094014	PEX1 deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4674533012	Peroxisome biogenesis disorder due to PEX1 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
4674534018	Peroxisome biogenesis disorder due to PEX1 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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