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237999008: Mitochondrial trifunctional protein deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
356715010 Mitochondrial trifunctional protein deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
356717019 Human trifunctional protein deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
356718012 Trifunctional protein deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
356720010 Trifunctional enzyme deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
626815011 Mitochondrial trifunctional protein deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mitochondrial trifunctional protein deficiency Is a Disorder of fatty acid metabolism false Inferred relationship Existential restriction modifier
Mitochondrial trifunctional protein deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Mitochondrial trifunctional protein deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Mitochondrial trifunctional protein deficiency Is a Fatty acid oxidation defect true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency Is a True Mitochondrial trifunctional protein deficiency Inferred relationship Existential restriction modifier
Combined long chain hydroxyacyl-coenzyme A dehydrogenase deficiency Is a True Mitochondrial trifunctional protein deficiency Inferred relationship Existential restriction modifier
Enoyl-CoA hydratase deficiency Is a False Mitochondrial trifunctional protein deficiency Inferred relationship Existential restriction modifier
3-Ketoacyl-coenzyme A triolase deficiency Is a True Mitochondrial trifunctional protein deficiency Inferred relationship Existential restriction modifier
Deficiency of enoyl-coenzyme A hydratase Is a True Mitochondrial trifunctional protein deficiency Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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