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Terminology chevron_right Concepts chevron_right 36070007

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Component

36070007

The component that hold information about this concept.

Fully Specified Name (FSN)

Wiskott-aldrich syndrome (disorder)

Shortest Term

Aldrich 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

Wiskott-aldrich syndrome (disorder)

SCTID: 36070007, Primitive, Active

36070007|Wiskott-aldrich syndrome (disorder)|

en Eczema, thrombocytopenia, immunodeficiency syndrome
en Wiskott aldrich syndrome
en Aldrich syndrome
en Was - wiskott-aldrich syndrome
en Wiskott-aldrich syndrome (disorder)
en Immunodeficiency with thrombocytopenia and eczema
en Wiskott-aldrich syndrome

Expression

36070007 |Wiskott-aldrich syndrome (disorder)|
 <<< 2897005 |Immune thrombocytopenia (disorder)| + 
234641000 |Immunodeficiency associated with multiple organ system abnormalities (disorder)| + 
363138005 |Hereditary disorder of immune system (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)| + 
438492008 |Hereditary thrombocytopenic disorder (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
737221003 |Congenital thrombocytopenia (disorder)| + 
234474009 |Dense body defect (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 61928009 |Platelet count (procedure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)|,
363714003 |Interprets (attribute)| = 74848003 |Hemostatic function (observable entity)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1228350017 - Eczema, thrombocytopenia, immunodeficiency syndrome (en) View
1228350017	en	Synonym (core metadata concept)	Eczema, thrombocytopenia, immunodeficiency syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3036167017 - Wiskott Aldrich syndrome (en) View
3036167017	en	Synonym (core metadata concept)	Wiskott Aldrich syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
1228352013 - Aldrich syndrome (en) View
1228352013	en	Synonym (core metadata concept)	Aldrich syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1228351018 - WAS - Wiskott-Aldrich syndrome (en) View
1228351018	en	Synonym (core metadata concept)	WAS - Wiskott-Aldrich syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
767779011 - Wiskott-Aldrich syndrome (disorder) (en) View
767779011	en	Fully specified name (core metadata concept)	Wiskott-Aldrich syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
60192012 - Immunodeficiency with thrombocytopenia and eczema (en) View
60192012	en	Synonym (core metadata concept)	Immunodeficiency with thrombocytopenia and eczema	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
60193019 - Immunodeficiency with thrombocytopenia AND eczema (en) View
60193019	en	Synonym (core metadata concept)	Immunodeficiency with thrombocytopenia AND eczema	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
60191017 - Wiskott-Aldrich syndrome (en) View
60191017	en	Synonym (core metadata concept)	Wiskott-Aldrich syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15402764020) - 36070007 -> 2897005 (116680003) View
116680003 \|Is a (attribute)\|	2897005 \|Immune thrombocytopenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571085027) - 36070007 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12436761026) - 36070007 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (761959029) - 36070007 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (761960023) - 36070007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11171211026) - 36070007 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571086026) - 36070007 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2731786021) - 36070007 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7295901029) - 36070007 -> 737221003 (116680003) View
116680003 \|Is a (attribute)\|	737221003 \|Congenital thrombocytopenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4779484023) - 36070007 -> 415116008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	415116008 \|Platelet count below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6786375028) - 36070007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6786376027) - 36070007 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3503309020) - 36070007 -> 414393003 (116680003) View
116680003 \|Is a (attribute)\|	414393003 \|Hereditary disorder of cellular element of blood (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4799932029) - 36070007 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (206644023) - 36070007 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (206646020) - 36070007 -> 43116000 (116680003) View
116680003 \|Is a (attribute)\|	43116000 \|Eczema (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (761961022) - 36070007 -> 16378004 (363698007) View
363698007 \|Finding site (attribute)\|	16378004 \|Platelet (cell structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1673704022) - 36070007 -> 10386005 (116680003) View
116680003 \|Is a (attribute)\|	10386005 \|Congenital thrombocytopenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2731785020) - 36070007 -> 415116008 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	415116008 \|Platelet count below reference range (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2786943025) - 36070007 -> 128153000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	128153000 \|Hemostatic system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3370539027) - 36070007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3370540025) - 36070007 -> 23583003 (116676008) View
116676008 \|Associated morphology (attribute)\|	23583003 \|Inflammation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3503308028) - 36070007 -> 438492008 (116680003) View
116680003 \|Is a (attribute)\|	438492008 \|Hereditary thrombocytopenic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1764703020) - 36070007 -> 23583003 (116676008) View
116676008 \|Associated morphology (attribute)\|	23583003 \|Inflammation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2522643023) - 36070007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (761957027) - 36070007 -> 4538007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4538007 \|Papulovesicular rash (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (761958021) - 36070007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2266379028) - 36070007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (206640025) - 36070007 -> 38164009 (116680003) View
116680003 \|Is a (attribute)\|	38164009 \|Congenital anomaly of integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (206645024) - 36070007 -> 40888008 (116680003) View
116680003 \|Is a (attribute)\|	40888008 \|Congenital anomaly of the hematopoietic system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (206648021) - 36070007 -> 70786006 (116680003) View
116680003 \|Is a (attribute)\|	70786006 \|Thrombocytopenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (761956020) - 36070007 -> 57171008 (363698007) View
363698007 \|Finding site (attribute)\|	57171008 \|Hematopoietic system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (206641026) - 36070007 -> 234474009 (116680003) View
116680003 \|Is a (attribute)\|	234474009 \|Dense body defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (206642022) - 36070007 -> 234641000 (116680003) View
116680003 \|Is a (attribute)\|	234641000 \|Immunodeficiency associated with multiple organ system abnormalities (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (206643028) - 36070007 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (206647027) - 36070007 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
2897005 View
2897005	Immune thrombocytopenia (disorder)	Giảm tiểu cầu miễn dịch	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
737221003 View
737221003	Congenital thrombocytopenia (disorder)	Congenital thrombocytopenia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
438492008 View
438492008	Hereditary thrombocytopenic disorder (disorder)	Hereditary thrombocytopenic disorder	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
234474009 View
234474009	Dense body defect (disorder)	Dense body defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234641000 View
234641000	Immunodeficiency associated with multiple organ system abnormalities (disorder)	Immunodeficiency associated with multiple organ system abnormalities	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363138005 View
363138005	Hereditary disorder of immune system (disorder)	Hereditary disorder of immune system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
403837005 View
403837005	Wiskott-aldrich autosomal dominant variant syndrome (disorder)	Wiskott-aldrich autosomal dominant variant syndrome	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 (584ad464-a0e9-53bb-bdf6-196edb6bce11) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D82.0	TRUE	ALWAYS D82.0	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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