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Terminology chevron_right Concepts chevron_right 1255278004

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Language with ID “0c51c347-731f-52ae-8eac-fcd86f279ba5” doesn’t exist. Perhaps it was deleted?

Component

1255278004

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)

Shortest Term

Xq28 contiguous gene deletion 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

X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)

SCTID: 1255278004, Primitive, Active

1255278004|X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)|

en X-linked myotubular myopathy, abnormal genitalia syndrome
en X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)
en Xq28 contiguous gene deletion syndrome

Expression

1255278004 |X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)|
 <<< 111312006 |Anomaly of chromosome x (disorder)| + 
363194005 |Disorder of male reproductive system (disorder)| + 
428522008 |Congenital anomaly of male urogenital tract (disorder)| + 
782964007 |Genetic disease (disorder)| + 
82077006 |Myotubular myopathy (disorder)| + 
880094008 |46,xy disorder of sex development (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 127954009 |Skeletal 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)| = 90264002 |Male genital structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 737544004 |Partial deletion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 312242007 |Long arm of chromosome (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 737544004 |Partial deletion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72837006 |Sex chromosome x (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5145832011 - X-linked myotubular myopathy, abnormal genitalia syndrome (en) View
5145832011	en	Synonym (core metadata concept)	X-linked myotubular myopathy, abnormal genitalia syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5145830015 - X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) (en) View
5145830015	en	Fully specified name (core metadata concept)	X-linked myotubular myopathy, abnormal genitalia syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
5145831016 - Xq28 contiguous gene deletion syndrome (en) View
5145831016	en	Synonym (core metadata concept)	Xq28 contiguous gene deletion syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15400259029) - 1255278004 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400260023) - 1255278004 -> 363194005 (116680003) View
116680003 \|Is a (attribute)\|	363194005 \|Disorder of male reproductive system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400261022) - 1255278004 -> 428522008 (116680003) View
116680003 \|Is a (attribute)\|	428522008 \|Congenital anomaly of male urogenital tract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400262026) - 1255278004 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400263020) - 1255278004 -> 82077006 (116680003) View
116680003 \|Is a (attribute)\|	82077006 \|Myotubular myopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400264025) - 1255278004 -> 880094008 (116680003) View
116680003 \|Is a (attribute)\|	880094008 \|46,xy disorder of sex development (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400265029) - 1255278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400266028) - 1255278004 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400267021) - 1255278004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400268027) - 1255278004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400269024) - 1255278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400270020) - 1255278004 -> 90264002 (363698007) View
363698007 \|Finding site (attribute)\|	90264002 \|Male genital structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400271024) - 1255278004 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400272028) - 1255278004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400273022) - 1255278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400274027) - 1255278004 -> 312242007 (363698007) View
363698007 \|Finding site (attribute)\|	312242007 \|Long arm of chromosome (cell structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400275026) - 1255278004 -> 737544004 (116676008) View
116676008 \|Associated morphology (attribute)\|	737544004 \|Partial deletion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400276025) - 1255278004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400277023) - 1255278004 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15400278029) - 1255278004 -> 737544004 (116676008) View
116676008 \|Associated morphology (attribute)\|	737544004 \|Partial deletion (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
880094008 View
880094008	46,xy disorder of sex development (disorder)	46,xy disorder of sex development	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111312006 View
111312006	Anomaly of chromosome x (disorder)	Anomaly of chromosome x	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
428522008 View
428522008	Congenital anomaly of male urogenital tract (disorder)	Congenital male urogenital anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363194005 View
363194005	Disorder of male reproductive system (disorder)	Disorder of male reproductive system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82077006 View
82077006	Myotubular myopathy (disorder)	Myotubular myopathy	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 (c55af9c7-2373-5959-88ca-5f91999731bd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G71.2	TRUE	ALWAYS G71.2 \| 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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