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Terminology chevron_right Concepts chevron_right 771511005

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Component

771511005

The component that hold information about this concept.

Fully Specified Name (FSN)

Thrombocythemia with distal limb defect (disorder)

Shortest Term

Thrombocythemia with distal limb 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

Thrombocythemia with distal limb defect (disorder)

SCTID: 771511005, Primitive, Active

771511005|Thrombocythemia with distal limb defect (disorder)|

en Familial thrombocytosis with transverse limb defect
en Hereditary thrombocytosis with transverse limb defect
en Thrombocythaemia with distal limb defect
en Thrombocythemia with distal limb defect
en Thrombocythemia with distal limb defect (disorder)

Expression

771511005 |Thrombocythemia with distal limb defect (disorder)|
 <<< 109420003 |Dysostosis (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
6631009 |Thrombocytosis (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
249571004 |Spleen finding (finding)| + 
234469001 |Inherited platelet disorder (disorder)| + 
36752001 |Congenital splenomegaly (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
88631000119105 |Congenital dysplasia of limb (disorder)| + 
897432004 |Structural abnormality of bone of limb (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 61928009 |Platelet count (procedure)| }
        { 116676008 |Associated morphology (attribute)| = 442021009 |Enlargement (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 181279003 |Entire spleen (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 48566001 |Bone structure of extremity (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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
3706560019 - Familial thrombocytosis with transverse limb defect (en) View
3706560019	en	Synonym (core metadata concept)	Familial thrombocytosis with transverse limb defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3706563017 - Hereditary thrombocytosis with transverse limb defect (en) View
3706563017	en	Synonym (core metadata concept)	Hereditary thrombocytosis with transverse limb defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3706564011 - Thrombocythaemia with distal limb defect (en) View
3706564011	en	Synonym (core metadata concept)	Thrombocythaemia with distal limb defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3706562010 - Thrombocythemia with distal limb defect (en) View
3706562010	en	Synonym (core metadata concept)	Thrombocythemia with distal limb defect	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3706561015 - Thrombocythemia with distal limb defect (disorder) (en) View
3706561015	en	Fully specified name (core metadata concept)	Thrombocythemia with distal limb defect (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16379311020) - 771511005 -> 897432004 (116680003) View
116680003 \|Is a (attribute)\|	897432004 \|Structural abnormality of bone of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511402028) - 771511005 -> 60475009 (116680003) View
116680003 \|Is a (attribute)\|	60475009 \|Congenital anomaly of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15681413027) - 771511005 -> 88631000119105 (116680003) View
116680003 \|Is a (attribute)\|	88631000119105 \|Congenital dysplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511401024) - 771511005 -> 249571004 (116680003) View
116680003 \|Is a (attribute)\|	249571004 \|Spleen finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069960029) - 771511005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11290454022) - 771511005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12437000027) - 771511005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511392022) - 771511005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10532541023) - 771511005 -> 441880008 (116676008) View
116676008 \|Associated morphology (attribute)\|	441880008 \|Congenital enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225607021) - 771511005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11290453027) - 771511005 -> 74848003 (363714003) View
363714003 \|Interprets (attribute)\|	74848003 \|Hemostatic function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11573536023) - 771511005 -> 442021009 (116676008) View
116676008 \|Associated morphology (attribute)\|	442021009 \|Enlargement (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511393028) - 771511005 -> 109420003 (116680003) View
116680003 \|Is a (attribute)\|	109420003 \|Dysostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511395024) - 771511005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511396020) - 771511005 -> 6631009 (116680003) View
116680003 \|Is a (attribute)\|	6631009 \|Thrombocytosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511398021) - 771511005 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511403022) - 771511005 -> 234469001 (116680003) View
116680003 \|Is a (attribute)\|	234469001 \|Inherited platelet disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511404027) - 771511005 -> 36752001 (116680003) View
116680003 \|Is a (attribute)\|	36752001 \|Congenital splenomegaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511407023) - 771511005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10511408029) - 771511005 -> 48566001 (363698007) View
363698007 \|Finding site (attribute)\|	48566001 \|Bone structure of extremity (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532537024) - 771511005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10532543021) - 771511005 -> 181279003 (363698007) View
363698007 \|Finding site (attribute)\|	181279003 \|Entire spleen (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539859027) - 771511005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549391023) - 771511005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549392027) - 771511005 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549393021) - 771511005 -> 61928009 (363714003) View
363714003 \|Interprets (attribute)\|	61928009 \|Platelet count (procedure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
897432004 View
897432004	Structural abnormality of bone of limb (disorder)	Abnormal limb bone morphology	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
88631000119105 View
88631000119105	Congenital dysplasia of limb (disorder)	Congenital dysplasia of limb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
6631009 View
6631009	Thrombocytosis (disorder)	Tăng tiểu cầu	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
234469001 View
234469001	Inherited platelet disorder (disorder)	Hereditary thrombocytopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
249571004 View
249571004	Spleen finding (finding)	Spleen finding	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36752001 View
36752001	Congenital splenomegaly (disorder)	Congenital splenomegaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
109420003 View
109420003	Dysostosis (disorder)	Dysostosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	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 (aa2a3d1a-0b9b-5b68-87cd-f5bfc08bf130) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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