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Terminology chevron_right Concepts chevron_right 763066009

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Component

763066009

The component that hold information about this concept.

Fully Specified Name (FSN)

Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)

Shortest Term

Houlston ironton temple 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

Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)

SCTID: 763066009, Primitive, Active

763066009|Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)|

en Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome
en Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)
en Houlston ironton temple syndrome

Expression

763066009 |Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)|
 <<< 11194003 |Congenital anomaly of anus (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
66510004 |Congenital anomaly of upper limb (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
93040009 |Congenital blepharophimosis (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1237074000 |Congenital atrioventricular septal defect (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 396351009 |Congenital septal defect (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 14692001 |Structure of atrioventricular septum (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)| = 53120007 |Upper limb structure (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)| = 53505006 |Anal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25659002 |Narrowed structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 595000 |Structure of palpebral fissure (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
3637756011 - Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (en) View
3637756011	en	Synonym (core metadata concept)	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3637757019 - Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) (en) View
3637757019	en	Fully specified name (core metadata concept)	Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3637753015 - Houlston Ironton Temple syndrome (en) View
3637753015	en	Synonym (core metadata concept)	Houlston Ironton Temple syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9532531025) - 763066009 -> 253272009 (116680003) View
116680003 \|Is a (attribute)\|	253272009 \|Congenital abnormality of cardiac connection (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9085608021) - 763066009 -> 59494005 (116680003) View
116680003 \|Is a (attribute)\|	59494005 \|Congenital septal defect of heart (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9085614025) - 763066009 -> 737156006 (116680003) View
116680003 \|Is a (attribute)\|	737156006 \|Congenital anomaly of atrioventricular septum (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10601556027) - 763066009 -> 773139006 (116680003) View
116680003 \|Is a (attribute)\|	773139006 \|Congenital abnormality of cardiac ventricle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12094971022) - 763066009 -> 788533006 (116680003) View
116680003 \|Is a (attribute)\|	788533006 \|Congenital abnormality of atrium (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15285046028) - 763066009 -> 1237074000 (116680003) View
116680003 \|Is a (attribute)\|	1237074000 \|Congenital atrioventricular septal defect (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069887029) - 763066009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085611022) - 763066009 -> 93040009 (116680003) View
116680003 \|Is a (attribute)\|	93040009 \|Congenital blepharophimosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10530055029) - 763066009 -> 91158006 (116680003) View
116680003 \|Is a (attribute)\|	91158006 \|Congenital anomaly of eyelid (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11491797022) - 763066009 -> 370116005 (116680003) View
116680003 \|Is a (attribute)\|	370116005 \|Narrowing of palpebral fissure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11542575025) - 763066009 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224140021) - 763066009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9224147024) - 763066009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9266207021) - 763066009 -> 15964981000119104 (116680003) View
116680003 \|Is a (attribute)\|	15964981000119104 \|Congenital anomaly of cardiac chamber (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10530056028) - 763066009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10596248029) - 763066009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085606020) - 763066009 -> 11194003 (116680003) View
116680003 \|Is a (attribute)\|	11194003 \|Congenital anomaly of anus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085607027) - 763066009 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085609029) - 763066009 -> 66510004 (116680003) View
116680003 \|Is a (attribute)\|	66510004 \|Congenital anomaly of upper limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085610023) - 763066009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085612026) - 763066009 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085613020) - 763066009 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085616028) - 763066009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085618027) - 763066009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085948027) - 763066009 -> 25659002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25659002 \|Narrowed structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9085949024) - 763066009 -> 595000 (363698007) View
363698007 \|Finding site (attribute)\|	595000 \|Structure of palpebral fissure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224141020) - 763066009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224142029) - 763066009 -> 14692001 (363698007) View
363698007 \|Finding site (attribute)\|	14692001 \|Structure of atrioventricular septum (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224143023) - 763066009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224144028) - 763066009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224145027) - 763066009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224146026) - 763066009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224148025) - 763066009 -> 396351009 (116676008) View
116676008 \|Associated morphology (attribute)\|	396351009 \|Congenital septal defect (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9224149022) - 763066009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238237027) - 763066009 -> 53505006 (363698007) View
363698007 \|Finding site (attribute)\|	53505006 \|Anal structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9239633027) - 763066009 -> 53120007 (363698007) View
363698007 \|Finding site (attribute)\|	53120007 \|Upper limb structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1237074000 View
1237074000	Congenital atrioventricular septal defect (disorder)	Congenital atrioventricular septal defect	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
93040009 View
93040009	Congenital blepharophimosis (disorder)	Congenital blepharophimosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11194003 View
11194003	Congenital anomaly of anus (disorder)	Congenital anomaly of anus	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
66510004 View
66510004	Congenital anomaly of upper limb (disorder)	Congenital anomaly of upper limb	900000000000073002 \|Sufficiently defined by necessary conditions 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
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions 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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (c7de6b6b-5231-51df-a771-bb2a235e6bec) 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)\|

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