1187527003: Peroxisome biogenesis disorder due to PEX13 mutation (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX13 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\PEX13 deficiency

\Metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX13 deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis 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

5327251000052117 PEX13-brist sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PEX13 deficiency	Is a	Peroxisome biogenesis disorder	true	Inferred relationship	Some
PEX13 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets