238066006: geïsoleerde peroxisomale enzymdeficiëntie (aandoening)

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

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

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
374961000146118 geïsoleerde peroxisomale enzymdeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
374971000146112 geïsoleerde peroxisomale enzymdeficiëntie (aandoening) nl Fully specified name Active Entire term 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
Loss of single peroxisomal function	Is a	Disorder of peroxisomal function	true	Inferred relationship	Some
Loss of single peroxisomal function	Finding site	Body system structure	false	Inferred relationship	Some
Loss of single peroxisomal function	Occurrence	Congenital	true	Inferred relationship	Some	1

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

This concept is not in any reference sets