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Terminology chevron_right Concepts chevron_right 772224009

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Component

772224009

The component that hold information about this concept.

Fully Specified Name (FSN)

Warburg micro syndrome (disorder)

Shortest Term

Micro 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

Warburg micro syndrome (disorder)

SCTID: 772224009, Primitive, Active

772224009|Warburg micro syndrome (disorder)|

en Micro syndrome
en Warburg micro syndrome
en Warburg micro syndrome (disorder)

Expression

772224009 |Warburg micro syndrome (disorder)|
 <<< 772225005 |Rab18, member ras oncogene family deficiency (disorder)| + 
204042007 |Congenital malformation of corpus callosum (disorder)| + 
205681004 |Gonadal dysgenesis (disorder)| + 
79410001 |Congenital cataract (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 88442005 |Corpus callosum structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (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)| = 43174007 |Gonadal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3717763019 - Micro syndrome (en) View
3717763019	en	Synonym (core metadata concept)	Micro syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3717757011 - Warburg micro syndrome (en) View
3717757011	en	Synonym (core metadata concept)	Warburg micro syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3717758018 - Warburg micro syndrome (disorder) (en) View
3717758018	en	Fully specified name (core metadata concept)	Warburg micro syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15094760028) - 772224009 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094761029) - 772224009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096125026) - 772224009 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096126025) - 772224009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577665027) - 772224009 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10750691027) - 772224009 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11344038020) - 772224009 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577657025) - 772224009 -> 204042007 (116680003) View
116680003 \|Is a (attribute)\|	204042007 \|Congenital malformation of corpus callosum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577658024) - 772224009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577659027) - 772224009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577660021) - 772224009 -> 88442005 (363698007) View
363698007 \|Finding site (attribute)\|	88442005 \|Corpus callosum structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577661020) - 772224009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577662029) - 772224009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577663023) - 772224009 -> 205681004 (116680003) View
116680003 \|Is a (attribute)\|	205681004 \|Gonadal dysgenesis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577664028) - 772224009 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577666026) - 772224009 -> 43174007 (363698007) View
363698007 \|Finding site (attribute)\|	43174007 \|Gonadal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577667024) - 772224009 -> 772225005 (116680003) View
116680003 \|Is a (attribute)\|	772225005 \|Rab18, member ras oncogene family deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577668025) - 772224009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577669022) - 772224009 -> 79410001 (116680003) View
116680003 \|Is a (attribute)\|	79410001 \|Congenital cataract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577670023) - 772224009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577671022) - 772224009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10577673020) - 772224009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
772225005 View
772225005	Rab18, member ras oncogene family deficiency (disorder)	Rab18 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205681004 View
205681004	Gonadal dysgenesis (disorder)	Gonadal dysgenesis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204042007 View
204042007	Congenital malformation of corpus callosum (disorder)	Dysgenesis of corpus callosum	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
79410001 View
79410001	Congenital cataract (disorder)	Congenital cataract	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 (6f6049dc-2362-5398-90be-adee1167d6ee) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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