55341000119107: Carnitine deficiency due to inborn error of metabolism (disorder)

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

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Amino acid deficiency\Carnitine deficiency (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)

\Nutritional disorder\Nutritional deficiency disorder\Undernutrition\Deficiency of micronutrients\Amino acid deficiency\Carnitine deficiency (disorder)\Carnitine deficiency due to inborn error of metabolism (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3011519013 Carnitine deficiency due to inborn error of metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3012236016 Carnitine deficiency due to inborn error of metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
10000761000172117 déficit en carnitine due à une erreur innée du métabolisme fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4527051000172110 carnitinedeficiëntie door aangeboren defect van stofwisseling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4527061000172112 deficiëntie van carnitine door aangeboren defect van stofwisseling nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4527071000172115 carnitinedeficiëntie door 'inborn error of metabolism' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carnitine deficiency due to inborn error of metabolism (disorder)	Due to	Inborn error of metabolism	true	Inferred relationship	Some	1
Carnitine deficiency due to inborn error of metabolism (disorder)	Is a	Disorder of fatty acid metabolism (disorder)	true	Inferred relationship	Some
Carnitine deficiency due to inborn error of metabolism (disorder)	Is a	Carnitine deficiency (disorder)	true	Inferred relationship	Some
Carnitine deficiency due to inborn error of metabolism (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets