238066006: Loss of single peroxisomal function (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)

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

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)

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

356848015 Loss of single peroxisomal function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626897019 Loss of single peroxisomal function (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

356848015 Loss of single peroxisomal function en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356848015 Loss of single peroxisomal function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626897019 Loss of single peroxisomal function (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626897019 Loss of single peroxisomal function (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6312131000241114 perte d'une fonction peroxysomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6312141000241116 perte d'une fonction des peroxysomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6312131000241114 perte d'une fonction peroxysomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6312141000241116 perte d'une fonction des peroxysomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Loss of single peroxisomal function (disorder)	Is a	Disorder of peroxisomal function	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Loss of single peroxisomal function (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Loss of single peroxisomal function (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Peroxisomal thiolase deficiency	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bifunctional peroxisomal enzyme deficiency	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Glutaryl-coenzyme A oxidase deficiency (disorder)	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dihydroxycholestanoic acidaemia and trihydroxycholestanoic acidaemia	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Isolated alkyldihydroxyacetone phosphate synthase deficiency	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Adrenoleukodystrophy	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Primary hyperoxaluria, type I (disorder)	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acatalasemia	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Leukoencephalopathy, dystonia, motor neuropathy syndrome	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Contiguous ABCD1 DXS1357E deletion syndrome	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Acyl-coenzyme A oxidase deficiency (disorder)	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	Is a	True	Loss of single peroxisomal function (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets