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Terminology chevron_right Concepts chevron_right 1264565005

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Component

1264565005

The component that hold information about this concept.

Fully Specified Name (FSN)

Familial lecithin cholesterol acyltransferase deficiency (disorder)

Shortest Term

Norum disease

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

Familial lecithin cholesterol acyltransferase deficiency (disorder)

SCTID: 1264565005, Primitive, Active

1264565005|Familial lecithin cholesterol acyltransferase deficiency (disorder)|

en Complete lcat deficiency
en Complete lcat (lecithin-cholesterol acyltransferase) deficiency
en Familial lecithin cholesterol acyltransferase deficiency
en Familial lecithin cholesterol acyltransferase deficiency (disorder)
en Norum disease

Expression

1264565005 |Familial lecithin cholesterol acyltransferase deficiency (disorder)|
 <<< 111941005 |Familial disease (disorder)| + 
238091006 |Lecithin cholesterol acyltransferase deficiency (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 28726007 |Corneal structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 28036006 |High density lipoprotein cholesterol measurement (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5173424019 - Complete LCAT deficiency (en) View
5173424019	en	Synonym (core metadata concept)	Complete LCAT deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5173426017 - Complete LCAT (lecithin-cholesterol acyltransferase) deficiency (en) View
5173426017	en	Synonym (core metadata concept)	Complete LCAT (lecithin-cholesterol acyltransferase) deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
5173423013 - Familial lecithin cholesterol acyltransferase deficiency (en) View
5173423013	en	Synonym (core metadata concept)	Familial lecithin cholesterol acyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5173422015 - Familial lecithin cholesterol acyltransferase deficiency (disorder) (en) View
5173422015	en	Fully specified name (core metadata concept)	Familial lecithin cholesterol acyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5173425018 - Norum disease (en) View
5173425018	en	Synonym (core metadata concept)	Norum disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15516132021) - 1264565005 -> 111941005 (116680003) View
116680003 \|Is a (attribute)\|	111941005 \|Familial disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516133027) - 1264565005 -> 238091006 (116680003) View
116680003 \|Is a (attribute)\|	238091006 \|Lecithin cholesterol acyltransferase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516134022) - 1264565005 -> 28036006 (363714003) View
363714003 \|Interprets (attribute)\|	28036006 \|High density lipoprotein cholesterol measurement (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516135023) - 1264565005 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516136024) - 1264565005 -> 28726007 (363698007) View
363698007 \|Finding site (attribute)\|	28726007 \|Corneal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516137026) - 1264565005 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111941005 View
111941005	Familial disease (disorder)	Familial disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238091006 View
238091006	Lecithin cholesterol acyltransferase deficiency (disorder)	Lcat deficiency	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 (251774bf-6baa-5057-a66d-1481de743f3d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E78.6	TRUE	ALWAYS E78.6 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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