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Terminology chevron_right Concepts chevron_right 716092007

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Component

716092007

The component that hold information about this concept.

Fully Specified Name (FSN)

Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)

Shortest Term

Schmitt gillenwater kelly 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

Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)

SCTID: 716092007, Primitive, Active

716092007|Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)|

en Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome
en Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)
en Schmitt gillenwater kelly syndrome

Expression

716092007 |Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
93288001 |Congenital hypoplasia of radius (disorder)| + 
205308004 |Triphalangeal thumb (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363338001 |Hereditary disorder of the urinary system (disorder)| + 
416010008 |Hypospadias (disorder)| + 
734012002 |Generalized spacing of maxillary teeth (finding)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1148766007 |Hereditary disorder of tooth (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| : 
        { 363698007 |Finding site (attribute)| = 68137000 |Structure of maxillary teeth (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 35105006 |Increased (qualifier value)|,
363714003 |Interprets (attribute)| = 734008008 |Spacing of teeth (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 62413002 |Bone structure of radius (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 408737001 |Malposition (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 87528003 |Structure of urethral meatus (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 91431006 |Supernumerary structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 2550002 |Bone structure of phalanx of thumb (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3311179011 - Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (en) View
3311179011	en	Synonym (core metadata concept)	Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3311178015 - Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) (en) View
3311178015	en	Fully specified name (core metadata concept)	Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3304703014 - Schmitt Gillenwater Kelly syndrome (en) View
3304703014	en	Synonym (core metadata concept)	Schmitt Gillenwater Kelly syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880921024) - 716092007 -> 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 (6634077028) - 716092007 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7157461029) - 716092007 -> 234947003 (116680003) View
116680003 \|Is a (attribute)\|	234947003 \|Tooth disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13717811021) - 716092007 -> 1148766007 (116680003) View
116680003 \|Is a (attribute)\|	1148766007 \|Hereditary disorder of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069618025) - 716092007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6634081028) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6644316022) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7157463026) - 716092007 -> 68137000 (363698007) View
363698007 \|Finding site (attribute)\|	68137000 \|Structure of maxillary teeth (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516453026) - 716092007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516455022) - 716092007 -> 60115006 (116676008) View
116676008 \|Associated morphology (attribute)\|	60115006 \|Congenital malposition (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516456023) - 716092007 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516457025) - 716092007 -> 87528003 (363698007) View
363698007 \|Finding site (attribute)\|	87528003 \|Structure of urethral meatus (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516459027) - 716092007 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11569477025) - 716092007 -> 408737001 (116676008) View
116676008 \|Associated morphology (attribute)\|	408737001 \|Malposition (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569478024) - 716092007 -> 87528003 (363698007) View
363698007 \|Finding site (attribute)\|	87528003 \|Structure of urethral meatus (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569479027) - 716092007 -> 2550002 (363698007) View
363698007 \|Finding site (attribute)\|	2550002 \|Bone structure of phalanx of thumb (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569480029) - 716092007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11663148027) - 716092007 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6575590027) - 716092007 -> 60115006 (116676008) View
116676008 \|Associated morphology (attribute)\|	60115006 \|Congenital malposition (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6575591028) - 716092007 -> 87528003 (363698007) View
363698007 \|Finding site (attribute)\|	87528003 \|Structure of urethral meatus (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634076021) - 716092007 -> 363045008 (116680003) View
116680003 \|Is a (attribute)\|	363045008 \|Connective tissue hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634084020) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644315021) - 716092007 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6644317029) - 716092007 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516454021) - 716092007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516458024) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6576176029) - 716092007 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6576177022) - 716092007 -> 62413002 (363698007) View
363698007 \|Finding site (attribute)\|	62413002 \|Bone structure of radius (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6596284026) - 716092007 -> 60115006 (116676008) View
116676008 \|Associated morphology (attribute)\|	60115006 \|Congenital malposition (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6611763027) - 716092007 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634073029) - 716092007 -> 35591002 (116680003) View
116680003 \|Is a (attribute)\|	35591002 \|Diastema of teeth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634083025) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7157462020) - 716092007 -> 734012002 (116680003) View
116680003 \|Is a (attribute)\|	734012002 \|Generalized spacing of maxillary teeth (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7158704020) - 716092007 -> 35105006 (363713009) View
363713009 \|Has interpretation (attribute)\|	35105006 \|Increased (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7158705021) - 716092007 -> 734008008 (363714003) View
363714003 \|Interprets (attribute)\|	734008008 \|Spacing of teeth (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7158706022) - 716092007 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7158707029) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7158708023) - 716092007 -> 62413002 (363698007) View
363698007 \|Finding site (attribute)\|	62413002 \|Bone structure of radius (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7158709026) - 716092007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6541143020) - 716092007 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6578844028) - 716092007 -> 91431006 (116676008) View
116676008 \|Associated morphology (attribute)\|	91431006 \|Supernumerary structure (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6597449022) - 716092007 -> 82680008 (363698007) View
363698007 \|Finding site (attribute)\|	82680008 \|Digit structure (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634082024) - 716092007 -> 76505004 (363698007) View
363698007 \|Finding site (attribute)\|	76505004 \|Thumb structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634085021) - 716092007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6634072023) - 716092007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6634074024) - 716092007 -> 93288001 (116680003) View
116680003 \|Is a (attribute)\|	93288001 \|Congenital hypoplasia of radius (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6634075020) - 716092007 -> 205308004 (116680003) View
116680003 \|Is a (attribute)\|	205308004 \|Triphalangeal thumb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6634078022) - 716092007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6634079025) - 716092007 -> 363338001 (116680003) View
116680003 \|Is a (attribute)\|	363338001 \|Hereditary disorder of the urinary system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6634080027) - 716092007 -> 416010008 (116680003) View
116680003 \|Is a (attribute)\|	416010008 \|Hypospadias (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
416010008 View
416010008	Hypospadias (disorder)	Hypospadias	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
734012002 View
734012002	Generalized spacing of maxillary teeth (finding)	Generalised spacing of maxillary teeth	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1148766007 View
1148766007	Hereditary disorder of tooth (disorder)	Hereditary disorder of tooth	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
205308004 View
205308004	Triphalangeal thumb (disorder)	Triphalangeal thumb	900000000000073002 \|Sufficiently defined by necessary conditions 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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
93288001 View
93288001	Congenital hypoplasia of radius (disorder)	Congenital short radius	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363338001 View
363338001	Hereditary disorder of the urinary system (disorder)	Hereditary disorder of the urinary 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 (4dfb4c18-5a64-5b8d-8c37-441f6eca1f7d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2 \| 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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