dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 721841001

Production

add

Component

721841001

The component that hold information about this concept.

Fully Specified Name (FSN)

Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)

Shortest Term

Cantalamessa baldini ambrosi 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

Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)

SCTID: 721841001, Primitive, Active

721841001|Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)|

en Hypogonadism with mitral valve prolapse and intellectual disability syndrome
en Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)
en Cantalamessa baldini ambrosi syndrome

Expression

721841001 |Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)|
 <<< 237836003 |Short stature disorder (disorder)| + 
370999003 |Primary hypogonadism (disorder)| + 
409712001 |Mitral valve prolapse (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 363698007 |Finding site (attribute)| = 304041004 |Gonadal endocrine structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 29696001 |Prolapse (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 91134007 |Mitral valve structure (body structure)| }
        { 370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        { 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
3326222014 - Hypogonadism with mitral valve prolapse and intellectual disability syndrome (en) View
3326222014	en	Synonym (core metadata concept)	Hypogonadism with mitral valve prolapse and intellectual disability syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3326221019 - Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) (en) View
3326221019	en	Fully specified name (core metadata concept)	Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3326223016 - Cantalamessa Baldini Ambrosi syndrome (en) View
3326223016	en	Synonym (core metadata concept)	Cantalamessa Baldini Ambrosi syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9127917029) - 721841001 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16317344024) - 721841001 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095029026) - 721841001 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095030020) - 721841001 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096393020) - 721841001 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096394025) - 721841001 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280520020) - 721841001 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761166029) - 721841001 -> 304041004 (363698007) View
363698007 \|Finding site (attribute)\|	304041004 \|Gonadal endocrine structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11578297025) - 721841001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761162027) - 721841001 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6761163021) - 721841001 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761164026) - 721841001 -> 370999003 (116680003) View
116680003 \|Is a (attribute)\|	370999003 \|Primary hypogonadism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761165025) - 721841001 -> 409712001 (116680003) View
116680003 \|Is a (attribute)\|	409712001 \|Mitral valve prolapse (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761167022) - 721841001 -> 29696001 (116676008) View
116676008 \|Associated morphology (attribute)\|	29696001 \|Prolapse (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6761168028) - 721841001 -> 91134007 (363698007) View
363698007 \|Finding site (attribute)\|	91134007 \|Mitral valve structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
409712001 View
409712001	Mitral valve prolapse (disorder)	Sa van hai lá	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
370999003 View
370999003	Primary hypogonadism (disorder)	Primary hypogonadism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (c01c491b-44a9-556e-8431-6da1ad7bb9d9) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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)\|

Terminology chevron_right Concepts chevron_right 721841001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches