238059005: stoornis van peroxisomale functie (aandoening)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

356841014 Disorder of peroxisomal function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626890017 Disorder of peroxisomal function (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6011551000146116 stoornis van peroxisomale functie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6011561000146118 stoornis van peroxisomale functie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11425571000146110 peroxisomale ziekte nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13084651000146110 Verzameling stofwisselingsaandoeningen waarbij het peroxisoom (het deel van een cel waar een bepaald soort vetten wordt omgezet) niet of niet goed werkt. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Disorder of peroxisomal function	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Disorder of peroxisomal function	Occurrence	Congenital	true	Inferred relationship	Some	1
Disorder of peroxisomal function	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
General loss of peroxisomal function	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Loss of multiple peroxisomal functions	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Loss of single peroxisomal function	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Peroxisome biogenesis disorder	Is a	True	Disorder of peroxisomal function	Inferred relationship	Some
Liver disease due to peroxisomal disease	Due to	True	Disorder of peroxisomal function	Inferred relationship	Some	2

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)