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Terminology chevron_right Concepts chevron_right 1237345002

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Component

1237345002

The component that hold information about this concept.

Fully Specified Name (FSN)

46,xx ovarian dysgenesis, short stature syndrome (disorder)

Shortest Term

46,xx ovarian dysgenesis, short stature 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

46,xx ovarian dysgenesis, short stature syndrome (disorder)

SCTID: 1237345002, Primitive, Active

1237345002|46,xx ovarian dysgenesis, short stature syndrome (disorder)|

en 46,xx ovarian dysgenesis, short stature syndrome
en 46,xx ovarian dysgenesis, short stature syndrome (disorder)

Expression

1237345002 |46,xx ovarian dysgenesis, short stature syndrome (disorder)|
 <<< 205683001 |Ovarian dysgenesis (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363290007 |Reproductive system hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
890460004 |46,xx disorder of sex development (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 304043001 |Ovarian endocrine structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 60877009 |Hormone secretion, function (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 50373000 |Body height measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5097824016 - 46,XX ovarian dysgenesis, short stature syndrome (en) View
5097824016	en	Synonym (core metadata concept)	46,XX ovarian dysgenesis, short stature syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
5097823010 - 46,XX ovarian dysgenesis, short stature syndrome (disorder) (en) View
5097823010	en	Fully specified name (core metadata concept)	46,XX ovarian dysgenesis, short stature syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15294409028) - 1237345002 -> 205683001 (116680003) View
116680003 \|Is a (attribute)\|	205683001 \|Ovarian dysgenesis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294410022) - 1237345002 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294411021) - 1237345002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294412025) - 1237345002 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294413024) - 1237345002 -> 363290007 (116680003) View
116680003 \|Is a (attribute)\|	363290007 \|Reproductive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294414029) - 1237345002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294415028) - 1237345002 -> 890460004 (116680003) View
116680003 \|Is a (attribute)\|	890460004 \|46,xx disorder of sex development (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294416027) - 1237345002 -> 60877009 (363714003) View
363714003 \|Interprets (attribute)\|	60877009 \|Hormone secretion, function (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294417020) - 1237345002 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294418026) - 1237345002 -> 50373000 (363714003) View
363714003 \|Interprets (attribute)\|	50373000 \|Body height measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294419023) - 1237345002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294420028) - 1237345002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294421029) - 1237345002 -> 304043001 (363698007) View
363698007 \|Finding site (attribute)\|	304043001 \|Ovarian endocrine structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294422020) - 1237345002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15294423026) - 1237345002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
890460004 View
890460004	46,xx disorder of sex development (disorder)	46,xx disorder of sex development	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205683001 View
205683001	Ovarian dysgenesis (disorder)	Ovarian dysgenesis	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
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363290007 View
363290007	Reproductive system hereditary disorder (disorder)	Reproductive system hereditary disorder	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 (da7433d3-01af-589f-947f-04ee80228410) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q96.8	TRUE	ALWAYS Q96.8	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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