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Terminology chevron_right Concepts chevron_right 234583001

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Component

234583001

The component that hold information about this concept.

Fully Specified Name (FSN)

Leukocyte adhesion deficiency - type 2 (disorder)

Shortest Term

Sialyl-lewis x defect

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

Leukocyte adhesion deficiency - type 2 (disorder)

SCTID: 234583001, Primitive, Active

234583001|Leukocyte adhesion deficiency - type 2 (disorder)|

en Congenital disorder of glycosylation type iic
en Leucocyte adhesion deficiency - type 2
en Leucocyte adhesion molecule deficiency - type 2
en Leukocyte adhesion deficiency - type 2
en Leukocyte adhesion deficiency - type 2 (disorder)
en Leukocyte adhesion molecule deficiency - type 2
en Lad - leukocyte adhesion deficiency type 2
en Lad - leucocyte adhesion deficiency type 2
en Sialyl-lewis x defect

Expression

234583001 |Leukocyte adhesion deficiency - type 2 (disorder)|
 <<< 1187233008 |Leukocyte adhesion deficiency (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4672872016 - Congenital disorder of glycosylation type IIc (en) View
4672872016	en	Synonym (core metadata concept)	Congenital disorder of glycosylation type IIc	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
351488017 - Leucocyte adhesion deficiency - type 2 (en) View
351488017	en	Synonym (core metadata concept)	Leucocyte adhesion deficiency - type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
351492012 - Leucocyte adhesion molecule deficiency - type 2 (en) View
351492012	en	Synonym (core metadata concept)	Leucocyte adhesion molecule deficiency - type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
351494013 - Leukocyte adhesion deficiency - type 2 (en) View
351494013	en	Synonym (core metadata concept)	Leukocyte adhesion deficiency - type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
622923014 - Leukocyte adhesion deficiency - type 2 (disorder) (en) View
622923014	en	Fully specified name (core metadata concept)	Leukocyte adhesion deficiency - type 2 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
351490016 - Leukocyte adhesion molecule deficiency - type 2 (en) View
351490016	en	Synonym (core metadata concept)	Leukocyte adhesion molecule deficiency - type 2	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
351489013 - LAD - Leukocyte adhesion deficiency type 2 (en) View
351489013	en	Synonym (core metadata concept)	LAD - Leukocyte adhesion deficiency type 2	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
351493019 - LAD - Leucocyte adhesion deficiency type 2 (en) View
351493019	en	Synonym (core metadata concept)	LAD - Leucocyte adhesion deficiency type 2	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
351491017 - Sialyl-Lewis X defect (en) View
351491017	en	Synonym (core metadata concept)	Sialyl-Lewis X defect	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (48322027) - 234583001 -> 77358003 (116680003) View
116680003 \|Is a (attribute)\|	77358003 \|Congenital leukocyte adherence deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2778956024) - 234583001 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11170560029) - 234583001 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14967705023) - 234583001 -> 1187233008 (116680003) View
116680003 \|Is a (attribute)\|	1187233008 \|Leukocyte adhesion deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14967706024) - 234583001 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14967711021) - 234583001 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14967712025) - 234583001 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2574041022) - 234583001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046352024) - 234583001 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2712229022) - 234583001 -> 250271003 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250271003 \|White blood cell finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2712230028) - 234583001 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (514361028) - 234583001 -> 52501007 (363698007) View
363698007 \|Finding site (attribute)\|	52501007 \|Leukocyte (cell)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2476244028) - 234583001 -> 24827003 (116676008) View
116676008 \|Associated morphology (attribute)\|	24827003 \|White blood cell abnormality (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2253664023) - 234583001 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (514363025) - 234583001 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (514362024) - 234583001 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1187233008 View
1187233008	Leukocyte adhesion deficiency (disorder)	Leucocyte adhesion deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions 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 (1790e5bf-a7fb-5ea1-b76f-904ae1c387c1) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D84.8	TRUE	ALWAYS D84.8	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)\|
ExtendedMap object (2d44c67c-8b1d-5fb8-aa44-7d7eea24f611) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D72.0	TRUE	ALWAYS D72.0	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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