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\PEX5 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\PEX5 deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX5 deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX5 deficiency

Status: current, Primitive. Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

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

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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