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Terminology chevron_right Concepts chevron_right 238091006

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Component

238091006

The component that hold information about this concept.

Fully Specified Name (FSN)

Lecithin cholesterol acyltransferase deficiency (disorder)

Shortest Term

Lcat deficiency

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

Lecithin cholesterol acyltransferase deficiency (disorder)

SCTID: 238091006, Primitive, Active

238091006|Lecithin cholesterol acyltransferase deficiency (disorder)|

en Lcat deficiency
en Lcat (lecithin-cholesterol acyltransferase) deficiency
en Lecithin cholesterol acyltransferase deficiency
en Lecithin cholesterol acyltransferase deficiency (disorder)

Expression

238091006 |Lecithin cholesterol acyltransferase deficiency (disorder)|
 <<< 190785000 |Hypoalphalipoproteinemia (disorder)| + 
64634000 |Corneal opacity (disorder)| + 
1172654005 |High density lipoprotein below reference range (finding)| + 
365793008 |Finding of cholesterol level (finding)| + 
782964007 |Genetic disease (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
5173412014 - LCAT deficiency (en) View
5173412014	en	Synonym (core metadata concept)	LCAT deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5173411019 - LCAT (lecithin-cholesterol acyltransferase) deficiency (en) View
5173411019	en	Synonym (core metadata concept)	LCAT (lecithin-cholesterol acyltransferase) deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
356906011 - Lecithin cholesterol acyltransferase deficiency (en) View
356906011	en	Synonym (core metadata concept)	Lecithin cholesterol acyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626925017 - Lecithin cholesterol acyltransferase deficiency (disorder) (en) View
626925017	en	Fully specified name (core metadata concept)	Lecithin cholesterol acyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (53751021) - 238091006 -> 234409003 (116680003) View
116680003 \|Is a (attribute)\|	234409003 \|Erythrocyte membrane abnormality (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527211027) - 238091006 -> 41898006 (363698007) View
363698007 \|Finding site (attribute)\|	41898006 \|Erythrocyte (cell)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15516124029) - 238091006 -> 64634000 (116680003) View
116680003 \|Is a (attribute)\|	64634000 \|Corneal opacity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516126027) - 238091006 -> 28726007 (363698007) View
363698007 \|Finding site (attribute)\|	28726007 \|Corneal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516127020) - 238091006 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516138020) - 238091006 -> 1172654005 (116680003) View
116680003 \|Is a (attribute)\|	1172654005 \|High density lipoprotein below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516139028) - 238091006 -> 365793008 (116680003) View
116680003 \|Is a (attribute)\|	365793008 \|Finding of cholesterol level (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516140026) - 238091006 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516141027) - 238091006 -> 28036006 (363714003) View
363714003 \|Interprets (attribute)\|	28036006 \|High density lipoprotein cholesterol measurement (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15516142023) - 238091006 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2713158024) - 238091006 -> 250228007 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250228007 \|Red blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2254100024) - 238091006 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53750022) - 238091006 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53752025) - 238091006 -> 363136009 (116680003) View
116680003 \|Is a (attribute)\|	363136009 \|Hereditary disorder of hematologic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527210026) - 238091006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527212023) - 238091006 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53753024) - 238091006 -> 190785000 (116680003) View
116680003 \|Is a (attribute)\|	190785000 \|Hypoalphalipoproteinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1172654005 View
1172654005	High density lipoprotein below reference range (finding)	High density lipoprotein below reference range	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
365793008 View
365793008	Finding of cholesterol level (finding)	Cholesterol level	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
64634000 View
64634000	Corneal opacity (disorder)	Độ mờ giác mạc	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
190785000 View
190785000	Hypoalphalipoproteinemia (disorder)	Hypoalphalipoproteinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1264565005 View
1264565005	Familial lecithin cholesterol acyltransferase deficiency (disorder)	Norum disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238092004 View
238092004	Fish-eye disease (disorder)	Fish-eye disease	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 (3d8a2107-45eb-51d9-a87d-a0e3488cec7a) 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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