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Terminology chevron_right Concepts chevron_right 40278002

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Component

40278002

The component that hold information about this concept.

Fully Specified Name (FSN)

Hepatic fructokinase deficiency (disorder)

Shortest Term

Benign fructosemia

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

Hepatic fructokinase deficiency (disorder)

SCTID: 40278002, Primitive, Active

40278002|Hepatic fructokinase deficiency (disorder)|

en Benign fructosaemia
en Benign fructosemia
en Essential benign fructosuria
en Essential fructosaemia
en Essential fructosemia
en Essential fructosuria
en Fructokinase deficiency
en Hepatic fructokinase deficiency
en Hepatic fructokinase deficiency (disorder)
en Ef - essential fructosemia
en Ef - essential fructosaemia

Expression

40278002 |Hepatic fructokinase deficiency (disorder)|
 <<< 24338009 |Fructosuria (disorder)| + 
78548001 |Enzymopathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
492519014 - Benign fructosaemia (en) View
492519014	en	Synonym (core metadata concept)	Benign fructosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
63662018 - Benign fructosemia (en) View
63662018	en	Synonym (core metadata concept)	Benign fructosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
63658012 - Essential benign fructosuria (en) View
63658012	en	Synonym (core metadata concept)	Essential benign fructosuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
492522011 - Essential fructosaemia (en) View
492522011	en	Synonym (core metadata concept)	Essential fructosaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
63663011 - Essential fructosemia (en) View
63663011	en	Synonym (core metadata concept)	Essential fructosemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
63660014 - Essential fructosuria (en) View
63660014	en	Synonym (core metadata concept)	Essential fructosuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
63661013 - Fructokinase deficiency (en) View
63661013	en	Synonym (core metadata concept)	Fructokinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
63659016 - Hepatic fructokinase deficiency (en) View
63659016	en	Synonym (core metadata concept)	Hepatic fructokinase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1203040015 - Hepatic fructokinase deficiency (disorder) (en) View
1203040015	en	Fully specified name (core metadata concept)	Hepatic fructokinase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
492521016 - EF - Essential fructosemia (en) View
492521016	en	Synonym (core metadata concept)	EF - Essential fructosemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
776890016 - Essential benign fructosuria (disorder) (en) View
776890016	en	Fully specified name (core metadata concept)	Essential benign fructosuria (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
492520015 - EF - Essential fructosaemia (en) View
492520015	en	Synonym (core metadata concept)	EF - Essential fructosaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (772676025) - 40278002 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674628024) - 40278002 -> 363137000 (116680003) View
116680003 \|Is a (attribute)\|	363137000 \|Hereditary disorder by system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (213676025) - 40278002 -> 20052008 (116680003) View
116680003 \|Is a (attribute)\|	20052008 \|Fructose-1,6-bisphosphate aldolase b deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674627025) - 40278002 -> 24338009 (116680003) View
116680003 \|Is a (attribute)\|	24338009 \|Fructosuria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1674629027) - 40278002 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1674630021) - 40278002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
24338009 View
24338009	Fructosuria (disorder)	Fructosuria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (ba51a8e0-8a42-5b11-9c96-9320668783a5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.1	TRUE	ALWAYS E74.1	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)\|

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