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\PEX1 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\PEX1 deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX1 deficiency
• \Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX1 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674094014	PEX1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4674533012	Peroxisome biogenesis disorder due to PEX1 mutation (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4674534018	Peroxisome biogenesis disorder due to PEX1 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

Back to Start