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Terminology chevron_right Concepts chevron_right 770438007

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Component

770438007

The component that hold information about this concept.

Fully Specified Name (FSN)

Infantile spasm and broad thumb syndrome (disorder)

Shortest Term

Tsao ellingson 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

Infantile spasm and broad thumb syndrome (disorder)

SCTID: 770438007, Primitive, Active

770438007|Infantile spasm and broad thumb syndrome (disorder)|

en Infantile spasm and broad thumb syndrome
en Infantile spasm and broad thumb syndrome (disorder)
en Infantile spasms, broad thumbs syndrome
en Tsao ellingson syndrome

Expression

770438007 |Infantile spasm and broad thumb syndrome (disorder)|
 <<< 129565002 |Disorder of skeletal and/or smooth muscle (disorder)| + 
1217008005 |Epileptic spasms (finding)| + 
394910004 |Congenital malformation of thumb (disorder)| + 
84757009 |Epilepsy (disorder)| + 
249773003 |Broad thumbs (finding)| + 
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 57697001 |Growth alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 76505004 |Thumb structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 71616004 |Skeletal and/or smooth muscle structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 83678007 |Cerebral structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3700866014 - Infantile spasm and broad thumb syndrome (en) View
3700866014	en	Synonym (core metadata concept)	Infantile spasm and broad thumb syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3700865013 - Infantile spasm and broad thumb syndrome (disorder) (en) View
3700865013	en	Fully specified name (core metadata concept)	Infantile spasm and broad thumb syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3700864012 - Infantile spasms, broad thumbs syndrome (en) View
3700864012	en	Synonym (core metadata concept)	Infantile spasms, broad thumbs syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3700867017 - Tsao Ellingson syndrome (en) View
3700867017	en	Synonym (core metadata concept)	Tsao Ellingson syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9617190023) - 770438007 -> 723437000 (116680003) View
116680003 \|Is a (attribute)\|	723437000 \|Infantile spasm (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15295242024) - 770438007 -> 1217008005 (116680003) View
116680003 \|Is a (attribute)\|	1217008005 \|Epileptic spasms (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617178021) - 770438007 -> 299129008 (363714003) View
363714003 \|Interprets (attribute)\|	299129008 \|Form of thumb (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9617180026) - 770438007 -> 23756001 (116676008) View
116676008 \|Associated morphology (attribute)\|	23756001 \|Congenital growth alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11301185026) - 770438007 -> 57697001 (116676008) View
116676008 \|Associated morphology (attribute)\|	57697001 \|Growth alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617173028) - 770438007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617174023) - 770438007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617175024) - 770438007 -> 394910004 (116680003) View
116680003 \|Is a (attribute)\|	394910004 \|Congenital malformation of thumb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617176020) - 770438007 -> 84757009 (116680003) View
116680003 \|Is a (attribute)\|	84757009 \|Epilepsy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617177027) - 770438007 -> 249773003 (116680003) View
116680003 \|Is a (attribute)\|	249773003 \|Broad thumbs (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617182023) - 770438007 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617183029) - 770438007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617184024) - 770438007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617185020) - 770438007 -> 129565002 (116680003) View
116680003 \|Is a (attribute)\|	129565002 \|Disorder of skeletal and/or smooth muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617186021) - 770438007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617187028) - 770438007 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9617188022) - 770438007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9620460024) - 770438007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9621728024) - 770438007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9624874028) - 770438007 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9632491026) - 770438007 -> 83678007 (363698007) View
363698007 \|Finding site (attribute)\|	83678007 \|Cerebral structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9633831026) - 770438007 -> 71616004 (363698007) View
363698007 \|Finding site (attribute)\|	71616004 \|Skeletal and/or smooth muscle structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545358021) - 770438007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1217008005 View
1217008005	Epileptic spasms (finding)	Epileptic spasms	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
394910004 View
394910004	Congenital malformation of thumb (disorder)	Congenital anomaly of thumb	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
84757009 View
84757009	Epilepsy (disorder)	Epilepsy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
129565002 View
129565002	Disorder of skeletal and/or smooth muscle (disorder)	Myopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
249773003 View
249773003	Broad thumbs (finding)	Broad thumbs	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 (5ddf79d8-51d2-5124-a9a4-953e040a228e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.4	TRUE	ALWAYS G40.4 \| 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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