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Terminology chevron_right Concepts chevron_right 39929009

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Component

39929009

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of fatty acid metabolism (disorder)

Shortest Term

Disorder of fat oxidation

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Disorder of fatty acid metabolism (disorder)

SCTID: 39929009, Primitive, Active

39929009|Disorder of fatty acid metabolism (disorder)|

en Disorder of fat oxidation
en Disorder of fatty acid metabolism
en Disorder of fatty acid metabolism (disorder)
en Disorders of fatty-acid metabolism

Expression

39929009 |Disorder of fatty acid metabolism (disorder)|
 <<< 86095007 |Inborn error of metabolism (disorder)| + 
116021002 |Disorder of organic acid metabolism (disorder)| + 
48286001 |Disorder of lipoprotein and/or lipid metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
492318017 - Disorder of fat oxidation (en) View
492318017	en	Synonym (core metadata concept)	Disorder of fat oxidation	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
66517017 - Disorder of fatty acid metabolism (en) View
66517017	en	Synonym (core metadata concept)	Disorder of fatty acid metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
776475011 - Disorder of fatty acid metabolism (disorder) (en) View
776475011	en	Fully specified name (core metadata concept)	Disorder of fatty acid metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
492317010 - Disorders of fatty-acid metabolism (en) View
492317010	en	Synonym (core metadata concept)	Disorders of fatty-acid metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
66518010 - Disorder of fatty acid metabolism, NOS (en) View
66518010	en	Synonym (core metadata concept)	Disorder of fatty acid metabolism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (771628028) - 39929009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (771629020) - 39929009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674559025) - 39929009 -> 48286001 (116680003) View
116680003 \|Is a (attribute)\|	48286001 \|Disorder of lipoprotein and/or lipid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (213068026) - 39929009 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (213069023) - 39929009 -> 116021002 (116680003) View
116680003 \|Is a (attribute)\|	116021002 \|Disorder of organic acid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
48286001 View
48286001	Disorder of lipoprotein and/or lipid metabolism (disorder)	Disorder of lipid and lipoprotein metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
116021002 View
116021002	Disorder of organic acid metabolism (disorder)	Organic acid metabolism disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1156591005 View
1156591005	Fatty acid oxidation defect (disorder)	Fatty acid oxidation defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725286002 View
725286002	Deficiency of 3-hydroxy-3-methylglutaryl-coenzyme a synthase (disorder)	Hmg-coenzyme a synthase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
55341000119107 View
55341000119107	Carnitine deficiency due to inborn error of metabolism (disorder)	Carnitine deficiency due to inborn error of metabolism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
702365002 View
702365002	Combined malonic and methylmalonic aciduria (disorder)	Combined malonic and methylmalonic aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
444944006 View
444944006	Deficiency of 2,4-dienoyl-coa reductase (disorder)	Deficiency of 2,4-dienoyl-coa reductase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
426387005 View
426387005	Long-chain fatty acid transport deficiency (disorder)	Long-chain fatty acid transport deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
22886006 View
22886006	Glutaric aciduria, type 2 (disorder)	Ema	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25362006 View
25362006	Phytanic acid storage disease (disorder)	Hmsn iv	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
90500005 View
90500005	Carnitine palmitoyltransferase deficiency (disorder)	Carnitine palmitoyltransferase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
124257002 View
124257002	Deficiency of carnitine acetyltransferase (disorder)	Deficiency of carnitine acetyltransferase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238000002 View
238000002	Combined deficiency of long chain 3-hydroxyacyl-coa dehydrogenase and enoyl-coa hydratase (disorder)	Combined deficiency of long chain 3-hydroxyacyl-coa dehydrogenase and enoyl-coa hydratase	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238004006 View
238004006	Succinyl-coa acetoacetate transferase deficiency (disorder)	Thioacyl transferase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
361203007 View
361203007	Malonic aciduria (disorder)	Malonic aciduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (569ecd4d-50bf-5dd4-9280-8dbfaa9375f2) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E71.3	TRUE	ALWAYS E71.3	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

Terminology chevron_right Concepts chevron_right 39929009

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