1187536004: Severe infantile 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 (disorder)\...

\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency
\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency
\Metabolic disease\Disorder of organic acid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency
\Metabolic disease\Enzymopathy\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency
\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of fatty acid metabolism (disorder)\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency

\Congenital disease (disorder)\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\...

\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase II deficiency\Severe infantile form of carnitine palmitoyltransferase II deficiency

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
Severe infantile form of carnitine palmitoyltransferase II deficiency	Is a	Carnitine palmitoyltransferase II deficiency	true	Inferred relationship	Some
Severe infantile form of carnitine palmitoyltransferase II deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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Source

Characteristic

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Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
4674101011	Severe infantile form of carnitine palmitoyltransferase II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4674102016	Severe infantile form of carnitine palmitoyltransferase II deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7290731000172112	ernstige infantiele vorm van deficiëntie van carnitinepalmitoyltransferase II	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7290741000172117	ernstige infantiele vorm van CPT2-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)