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Terminology chevron_right Concepts chevron_right 717046003

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Component

717046003

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

Shortest Term

Autosomal dominant hyperinsulinism due to sur1 deficiency

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

Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)

SCTID: 717046003, Primitive, Active

717046003|Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)|

vi Tăng insulin di truyền trội ở thể nhiễm sắc thường do thiếu hụt sur1
en Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency
en Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
en Autosomal dominant hyperinsulinism due to sur1 deficiency

Expression

717046003 |Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
1363361006 |Diazoxide-sensitive diffuse hyperinsulinism (disorder)| + 
66091009 |Congenital disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 78696007 |Endocrine pancreatic structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
456511000003111 - tăng insulin di truyền trội ở thể nhiễm sắc thường do thiếu hụt SUR1 (vi) View
456511000003111	vi	Synonym (core metadata concept)	tăng insulin di truyền trội ở thể nhiễm sắc thường do thiếu hụt SUR1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
3308270019 - Autosomal dominant hyperinsulinism due to sulphonylurea receptor 1 deficiency (en) View
3308270019	en	Synonym (core metadata concept)	Autosomal dominant hyperinsulinism due to sulphonylurea receptor 1 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
3308269015 - Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (en) View
3308269015	en	Synonym (core metadata concept)	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3308268011 - Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder) (en) View
3308268011	en	Fully specified name (core metadata concept)	Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3308271015 - Autosomal dominant hyperinsulinism due to SUR1 deficiency (en) View
3308271015	en	Synonym (core metadata concept)	Autosomal dominant hyperinsulinism due to SUR1 deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6571604025) - 717046003 -> 83469008 (116680003) View
116680003 \|Is a (attribute)\|	83469008 \|Hyperinsulinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16329789029) - 717046003 -> 1363361006 (116680003) View
116680003 \|Is a (attribute)\|	1363361006 \|Diazoxide-sensitive diffuse hyperinsulinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15880924027) - 717046003 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12876714025) - 717046003 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571606028) - 717046003 -> 78696007 (363698007) View
363698007 \|Finding site (attribute)\|	78696007 \|Endocrine pancreatic structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112355024) - 717046003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7112356020) - 717046003 -> 78696007 (363698007) View
363698007 \|Finding site (attribute)\|	78696007 \|Endocrine pancreatic structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6682245022) - 717046003 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571603020) - 717046003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6571605029) - 717046003 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1363361006 View
1363361006	Diazoxide-sensitive diffuse hyperinsulinism (disorder)	Diazoxide-sensitive diffuse hyperinsulinism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions 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

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 (86e5bfc1-f368-55a6-91ee-c79a3581b9f5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E16.1	TRUE	ALWAYS E16.1	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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