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238066006: 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


17 descendants. Search Descendants:

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

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