1187529000: peroxisomale biogenesestoornis door PEX10-mutatie (aandoening)

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\PEX10 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\PEX10 deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX10 deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX10 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

4674087011 PEX10 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674535017 Peroxisome biogenesis disorder due to PEX10 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674536016 Peroxisome biogenesis disorder due to PEX10 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13247051000146110 peroxisomale biogenesestoornis door PEX10-mutatie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247061000146113 peroxisomale biogenesestoornis door PEX10-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247071000146119 stoornis in biogenese van peroxisomen door PEX10-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247081000146117 PEX10-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247091000146115 peroxisoombiogenesedefect door PEX10-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PEX10 deficiency	Is a	Peroxisome biogenesis disorder	true	Inferred relationship	Some
PEX10 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