1187550009: peroxisomale biogenesestoornis door PEX6-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\PEX6 deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Peroxisome biogenesis disorder\PEX6 deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX6 deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Peroxisome biogenesis disorder\PEX6 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

4674131017 PEX6 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674520018 Peroxisome biogenesis disorder due to PEX6 mutation en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4674521019 Peroxisome biogenesis disorder due to PEX6 mutation (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13247551000146115 peroxisomale biogenesestoornis door PEX6-mutatie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247561000146117 peroxisoombiogenesedefect door PEX6-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247571000146111 stoornis in biogenese van peroxisomen door PEX6-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247581000146113 PEX6-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13247591000146110 peroxisomale biogenesestoornis door PEX6-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
PEX6 deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
PEX6 deficiency	Is a	Peroxisome biogenesis disorder	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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This concept is not in any reference sets