1187511005: neonatale vorm van deficiëntie van carnitinepalmitoyltransferase II (aandoening)

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)

\Disorder of foetus and/or newborn\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)

\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 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\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)	Is a	Carnitine palmitoyltransferase II deficiency	true	Inferred relationship	Some
Neonatal form of carnitine palmitoyltransferase II deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
13246751000146114	neonatale vorm van deficiëntie van carnitinepalmitoyltransferase II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246761000146112	neonatale vorm van CPT2-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13246771000146118	neonatale vorm van deficiëntie van carnitinepalmitoyltransferase II (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)