1187511005: Neonatal form of carnitine palmitoyltransferase II deficiency (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)\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)
• \Fetal and/or neonatal disorder\Congenital 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)
• \Metabolic disease\Hereditary 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\Hereditary 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\Disorder of organic acid metabolism (disorder)\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)\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)

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
7724971000241114	forme néonatale d'un déficit en CPTII (carnitine palmitoyltransférase II)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7724981000241111	forme néonatale d'un déficit en CPT2 (carnitine palmitoyltransférase de type 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7724991000241113	forme néonatale d'un déficit en carnitine palmitoyltransférase II	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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