238001003: Carnitine palmitoyltransferase I 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 I deficiency

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency

\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of fatty acid metabolism (disorder)\...

\Fatty acid oxidation defect (disorder)\Carnitine palmitoyltransferase I deficiency

\Carnitine palmitoyltransferase deficiency\Carnitine palmitoyltransferase I deficiency

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Carnitine palmitoyltransferase I deficiency	Is a	Carnitine palmitoyltransferase deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase I deficiency	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine palmitoyltransferase I deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Carnitine palmitoyltransferase I deficiency	Is a	Fatty acid oxidation defect (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
356722019	Carnitine palmitoyltransferase I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356723012	Liver form of carnitine palmitoyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356724018	CPTI - Carnitine palmitoyltransferase deficiency type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356725017	CPT1 - Carnitine palmitoyltransferase I deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626817015	Carnitine palmitoyltransferase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3037183010	Carnitine palmitoyltransferase deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356722019	Carnitine palmitoyltransferase I deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356723012	Liver form of carnitine palmitoyltransferase deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
356723012	Liver form of carnitine palmitoyltransferase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
356724018	CPTI - Carnitine palmitoyltransferase deficiency type I	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
356725017	CPT1 - Carnitine palmitoyltransferase I deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
626817015	Carnitine palmitoyltransferase I deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3037183010	Carnitine palmitoyltransferase deficiency type 1	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3037183010	Carnitine palmitoyltransferase deficiency type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3411991001000111	Carnitin-Palmitoyl-Transferase IA-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5021381000241113	déficit en carnitine palmitoyltransférase I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5021381000241113	déficit en carnitine palmitoyltransférase I	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411991001000111	Carnitin-Palmitoyl-Transferase IA-Mangel	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module