1187523004: Peroxisome biogenesis disorder due to PEX3 mutation (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\PEX3 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder (disorder)\PEX3 deficiency
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\PEX3 deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\PEX3 deficiency

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674076015	PEX3 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674551013	Peroxisome biogenesis disorder due to PEX3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674552018	Peroxisome biogenesis disorder due to PEX3 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674076015	PEX3 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674551013	Peroxisome biogenesis disorder due to PEX3 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674552018	Peroxisome biogenesis disorder due to PEX3 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6487281000241111	trouble de la biogenèse du péroxysome due à une mutation du gène PEX3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487291000241113	anomalie de la biogenèse du péroxysome due à une mutation du gène PEX3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487281000241111	trouble de la biogenèse du péroxysome due à une mutation du gène PEX3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6487291000241113	anomalie de la biogenèse du péroxysome due à une mutation du gène PEX3	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

GB English

US English

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