1187511005: Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\...
• \Inborn error of metabolism\Disorder of fatty acid metabolism\...
• \Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism\...
• \Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)
• \Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4674051016	Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674052011	Neonatal form of carnitine palmitoyltransferase II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5346281000052112	brist på neonatal form av karnitinpalmitoyltransferas 2	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

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