1187548001: Peroxisome biogenesis disorder due to PEX5 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)\Peroxisome biogenesis disorder due to PEX5 mutation (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder (disorder)\Peroxisome biogenesis disorder due to PEX5 mutation (disorder)
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\Peroxisome biogenesis disorder due to PEX5 mutation (disorder)
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\Peroxisome biogenesis disorder due to PEX5 mutation (disorder)

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
4674127011	PEX5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674522014	Peroxisome biogenesis disorder due to PEX5 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674523016	Peroxisome biogenesis disorder due to PEX5 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674127011	PEX5 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674522014	Peroxisome biogenesis disorder due to PEX5 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674523016	Peroxisome biogenesis disorder due to PEX5 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6437421000241118	trouble de la biogenèse du péroxysome due à une mutation du gène PEX5	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6437431000241116	anomalie de la biogenèse du péroxysome due à une mutation du gène PEX5	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6437421000241118	trouble de la biogenèse du péroxysome due à une mutation du gène PEX5	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6437431000241116	anomalie de la biogenèse du péroxysome due à une mutation du gène PEX5	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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