124621004: Deficiency of enoyl-coenzyme A hydratase (disorder)

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

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Deficiency of enoyl-CoA hydratase

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Deficiency of enoyl-CoA hydratase

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Deficiency of enoyl-CoA hydratase
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Deficiency of enoyl-CoA hydratase
\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of enoyl-CoA hydratase
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Deficiency of enoyl-CoA hydratase

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Mitochondrial trifunctional protein deficiency\Deficiency of enoyl-CoA hydratase

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

204787019 Deficiency of unsaturated acyl-CoA hydratase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

204788012 Deficiency of enoyl hydrase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204789016 Deficiency of enoyl-CoA hydratase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2162095014 Enoyl-CoA hydratase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2970891018 Deficiency of enoyl-coenzyme A hydratase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2971656016 Deficiency of enoyl-coenzyme A hydratase (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

789991000052118 brist på enoyl-CoA-hydratas sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of enoyl-CoA hydratase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of enoyl-CoA hydratase	Finding site	Body system structure	false	Inferred relationship	Some
Deficiency of enoyl-CoA hydratase	Is a	Mitochondrial trifunctional protein deficiency	true	Inferred relationship	Some
Deficiency of enoyl-CoA hydratase	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets