1187527003: Peroxisome biogenesis disorder due to PEX13 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)\PEX13 deficiency
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder (disorder)\PEX13 deficiency
• \Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\PEX13 deficiency
• \Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder (disorder)\PEX13 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
4674083010	PEX13 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674539011	Peroxisome biogenesis disorder due to PEX13 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674540013	Peroxisome biogenesis disorder due to PEX13 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674083010	PEX13 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674539011	Peroxisome biogenesis disorder due to PEX13 mutation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674540013	Peroxisome biogenesis disorder due to PEX13 mutation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
6447301000241118	trouble de la biogenèse du péroxysome due à une mutation du gène PEX13	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6447311000241116	anomalie de la biogenèse du péroxysome due à une mutation du gène PEX13	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6447301000241118	trouble de la biogenèse du péroxysome due à une mutation du gène PEX13	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6447311000241116	anomalie de la biogenèse du péroxysome due à une mutation du gène PEX13	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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