dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 54569005

Production

add

Component

54569005

The component that hold information about this concept.

Fully Specified Name (FSN)

Bernard soulier syndrome (disorder)

Shortest Term

Bernard-soulier syndrome

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

Bernard soulier syndrome (disorder)

SCTID: 54569005, Primitive, Active

54569005|Bernard soulier syndrome (disorder)|

en Bernard-soulier syndrome
en Bernard soulier syndrome (disorder)
en Bernard soulier syndrome

Expression

54569005 |Bernard soulier syndrome (disorder)|
 <<< 128096008 |Hereditary platelet function disorder (disorder)| + 
234472008 |Glycoprotein ib defect (disorder)| + 
438492008 |Hereditary thrombocytopenic disorder (disorder)| + 
234478007 |Giant platelet syndrome (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 61928009 |Platelet count (procedure)| }
        { 363698007 |Finding site (attribute)| = 91689009 |Body system structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 74848003 |Hemostatic function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1231353016 - Bernard-Soulier syndrome (en) View
1231353016	en	Synonym (core metadata concept)	Bernard-Soulier syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
792814017 - Bernard Soulier syndrome (disorder) (en) View
792814017	en	Fully specified name (core metadata concept)	Bernard Soulier syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
90700012 - Bernard Soulier syndrome (en) View
90700012	en	Synonym (core metadata concept)	Bernard Soulier syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
213759014 - Hemorrhagic dystrophic thrombocytopenia (en) View
213759014	en	Synonym (core metadata concept)	Hemorrhagic dystrophic thrombocytopenia	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14976118025) - 54569005 -> 234478007 (116680003) View
116680003 \|Is a (attribute)\|	234478007 \|Giant platelet syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4784691020) - 54569005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11572815021) - 54569005 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12436756028) - 54569005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12436758027) - 54569005 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11572814020) - 54569005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4779100024) - 54569005 -> 415116008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	415116008 \|Platelet count below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6786407022) - 54569005 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6786408028) - 54569005 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (809178021) - 54569005 -> 16378004 (363698007) View
363698007 \|Finding site (attribute)\|	16378004 \|Platelet (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2734306020) - 54569005 -> 250311007 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	250311007 \|Platelet finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2787780022) - 54569005 -> 128153000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	128153000 \|Hemostatic system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3497915022) - 54569005 -> 438492008 (116680003) View
116680003 \|Is a (attribute)\|	438492008 \|Hereditary thrombocytopenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2268052027) - 54569005 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (809177027) - 54569005 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (236851027) - 54569005 -> 128096008 (116680003) View
116680003 \|Is a (attribute)\|	128096008 \|Hereditary platelet function disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (236852023) - 54569005 -> 234472008 (116680003) View
116680003 \|Is a (attribute)\|	234472008 \|Glycoprotein ib defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
438492008 View
438492008	Hereditary thrombocytopenic disorder (disorder)	Hereditary thrombocytopenic disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
128096008 View
128096008	Hereditary platelet function disorder (disorder)	Hereditary platelet function disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234472008 View
234472008	Glycoprotein ib defect (disorder)	Glycoprotein ib defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234478007 View
234478007	Giant platelet syndrome (disorder)	Giant platelet syndrome	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 (ad2a5936-387f-5da8-9ffa-698a31311488) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D69.1	TRUE	ALWAYS D69.1	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)\|

Terminology chevron_right Concepts chevron_right 54569005

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches