1187530005: peroxisomale biogenesestoornis door PEX12-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\PEX12 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\PEX12 deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX12 deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX12 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

4674090017 PEX12 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674537013 Peroxisome biogenesis disorder due to PEX12 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674538015 Peroxisome biogenesis disorder due to PEX12 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13247101000146110 PEX12-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247111000146112 stoornis in biogenese van peroxisomen door PEX12-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247121000146119 peroxisomale biogenesestoornis door PEX12-mutatie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247131000146117 peroxisoombiogenesedefect door PEX12-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247141000146113 peroxisomale biogenesestoornis door PEX12-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
PEX12 deficiency	Is a	Peroxisome biogenesis disorder	true	Inferred relationship	Some
PEX12 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Active

Source

Characteristic

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Group

This concept is not in any reference sets