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Terminology chevron_right Concepts chevron_right 737221003

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Component

737221003

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital thrombocytopenia (disorder)

Shortest Term

Congenital thrombocytopenia

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Congenital thrombocytopenia (disorder)

SCTID: 737221003, Defined, Active

737221003|Congenital thrombocytopenia (disorder)|

en Congenital thrombocytopaenia
en Congenital thrombocytopenia
en Congenital thrombocytopenia (disorder)

Expression

737221003 |Congenital thrombocytopenia (disorder)|
 === 66091009 |Congenital disease (disorder)| + 
302215000 |Thrombocytopenic disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 61928009 |Platelet count (procedure)| }
        { 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
3527199018 - Congenital thrombocytopaenia (en) View
3527199018	en	Synonym (core metadata concept)	Congenital thrombocytopaenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3527198014 - Congenital thrombocytopenia (en) View
3527198014	en	Synonym (core metadata concept)	Congenital thrombocytopenia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3527197016 - Congenital thrombocytopenia (disorder) (en) View
3527197016	en	Fully specified name (core metadata concept)	Congenital thrombocytopenia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11575280024) - 737221003 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12436953027) - 737221003 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7296150026) - 737221003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11575281023) - 737221003 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7296148023) - 737221003 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7296149026) - 737221003 -> 302215000 (116680003) View
116680003 \|Is a (attribute)\|	302215000 \|Thrombocytopenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7296151027) - 737221003 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7296152023) - 737221003 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
302215000 View
302215000	Thrombocytopenic disorder (disorder)	Thrombocytopenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1351776006 View
1351776006	Autosomal recessive combined immunodeficiency due to wiskott aldrich syndrome protein-interacting protein deficiency (disorder)	Autosomal recessive combined immunodeficiency due to wip deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1351778007 View
1351778007	Autosomal recessive combined immunodeficiency due to arp2/3-mediated filament branching defect (disorder)	Autosomal recessive combined immunodeficiency due to arpc1b mutation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208617001 View
1208617001	Congenital autosomal recessive small-platelet thrombocytopenia (disorder)	Congenital autosomal recessive small-platelet thrombocytopenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208725005 View
1208725005	Multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome (disorder)	Cutaneovisceral angiomatosis, thrombocytopenia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172685001 View
1172685001	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)	Takenouchi kosaki syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
783194008 View
783194008	Bleeding diathesis due to thromboxane synthesis deficiency (disorder)	Bleeding diathesis due to thromboxane synthesis deficiency	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28975000 View
28975000	Constitutional aplastic anemia (disorder)	Congenital aplastic anemia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
733096007 View
733096007	Thyrocerebrorenal syndrome (disorder)	Thyrocerebrorenal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719021005 View
719021005	Dk phocomelia syndrome (disorder)	Dk phocomelia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720521008 View
720521008	Autosomal dominant macrothrombocytopenia (disorder)	Autosomal dominant macrothrombocytopenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722475006 View
722475006	X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder)	X-linked congenital dyserythropoietic anemia with thrombocytopenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716336002 View
716336002	Congenital amegakaryocytic thrombocytopenia (disorder)	Congenital amegakaryocytic thrombocytopenia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
712922002 View
712922002	Myosin heavy chain 9 non muscle related disease (disorder)	Myh9 related disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
711407000 View
711407000	Thrombocytopathy, asplenia and miosis (disorder)	Stormorken syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36070007 View
36070007	Wiskott-aldrich syndrome (disorder)	Aldrich syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85589009 View
85589009	Radial aplasia-thrombocytopenia syndrome (disorder)	Tar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86635005 View
86635005	Kasabach-merritt syndrome (disorder)	Kasabach merritt syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
359531004 View
359531004	Amegakaryocytic thrombocytopenia with congenital malformation (disorder)	Amegakaryocytic thrombocytopenia with congenital malformation	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 (feb933d9-d2fa-5245-b3e3-f14d288670fb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D69.4	TRUE	ALWAYS D69.4	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 737221003

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