238069004: Acyl-coenzyme A oxidase deficiency (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\Acyl-CoA oxidase deficiency

\Inherited metabolic disorder of nervous system\Acyl-CoA oxidase deficiency

\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Acyl-CoA oxidase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Acyl-CoA oxidase deficiency

\Degenerative disorder\Acyl-CoA oxidase deficiency

\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Acyl-CoA oxidase deficiency
\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Acyl-CoA oxidase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\...

\Disorder of peroxisomal function\Loss of single peroxisomal function\Acyl-CoA oxidase deficiency

\Inherited metabolic disorder of nervous system\Acyl-CoA oxidase deficiency

\Congenital disease (disorder)\Inborn error of metabolism\...

\Disorder of peroxisomal function\Loss of single peroxisomal function\Acyl-CoA oxidase deficiency

\Inherited metabolic disorder of nervous system\Acyl-CoA oxidase deficiency

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

356853013 Acyl-CoA oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

356854019 Pseudo-neonatal adrenoleucodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2971297015 Acyl-coenzyme A oxidase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971496010 Acyl-coenzyme A oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3425921019 Peroxisomal acyl-CoA oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3425922014 Straight-chain acyl-CoA oxidase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3521402019 Pseudoadrenoleukodystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5021761000241116 déficit en acyl-CoA oxidase fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Acyl-CoA oxidase deficiency	Is a	Adrenoleukodystrophy	false	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Occurrence	Congenital	false	Inferred relationship	Some	1
Acyl-CoA oxidase deficiency	Finding site	Adrenal cortex structure	false	Inferred relationship	Some	1
Acyl-CoA oxidase deficiency	Is a	Loss of single peroxisomal function	true	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	Degenerative disorder	true	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	2
Acyl-CoA oxidase deficiency	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Acyl-CoA oxidase deficiency	Associated morphology	Degenerative abnormality	true	Inferred relationship	Some	1
Acyl-CoA oxidase deficiency	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some

Inbound Relationships

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Active

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Characteristic

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Reference Sets