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Terminology chevron_right Concepts chevron_right 723336008

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Component

723336008

The component that hold information about this concept.

Fully Specified Name (FSN)

Fallot complex with intellectual disability and growth delay syndrome (disorder)

Shortest Term

Bindewald ulmer muller 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

Fallot complex with intellectual disability and growth delay syndrome (disorder)

SCTID: 723336008, Primitive, Active

723336008|Fallot complex with intellectual disability and growth delay syndrome (disorder)|

en Bindewald ulmer muller syndrome
en Fallot complex with intellectual disability and growth delay syndrome
en Fallot complex with intellectual disability and growth delay syndrome (disorder)

Expression

723336008 |Fallot complex with intellectual disability and growth delay syndrome (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
86299006 |Tetralogy of fallot (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
444896005 |Growth retardation (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 415582006 |Stenosis (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39057004 |Pulmonary valve structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 30812002 |Overriding structures (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113262008 |Thoracic aorta structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 783804002 |Abnormal communication (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 589001 |Interventricular septum structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 56246009 |Hypertrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 244384009 |Entire right cardiac ventricle (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 59576002 |Growth retardation (morphologic abnormality)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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
3425869015 - Bindewald Ulmer Muller syndrome (en) View
3425869015	en	Synonym (core metadata concept)	Bindewald Ulmer Muller syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3425870019 - Fallot complex with intellectual disability and growth delay syndrome (en) View
3425870019	en	Synonym (core metadata concept)	Fallot complex with intellectual disability and growth delay syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3425871015 - Fallot complex with intellectual disability and growth delay syndrome (disorder) (en) View
3425871015	en	Fully specified name (core metadata concept)	Fallot complex with intellectual disability and growth delay syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9127954022) - 723336008 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316778020) - 723336008 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538872020) - 723336008 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15495033023) - 723336008 -> 783804002 (116676008) View
116676008 \|Associated morphology (attribute)\|	783804002 \|Abnormal communication (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095103029) - 723336008 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095104024) - 723336008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096467028) - 723336008 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096468022) - 723336008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069412022) - 723336008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280364029) - 723336008 -> 59576002 (116676008) View
116676008 \|Associated morphology (attribute)\|	59576002 \|Growth retardation (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280365028) - 723336008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811834023) - 723336008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6811835024) - 723336008 -> 589001 (363698007) View
363698007 \|Finding site (attribute)\|	589001 \|Interventricular septum structure (body structure)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6940244026) - 723336008 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9312129028) - 723336008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524244022) - 723336008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524245023) - 723336008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524248020) - 723336008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524249028) - 723336008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538873026) - 723336008 -> 589001 (363698007) View
363698007 \|Finding site (attribute)\|	589001 \|Interventricular septum structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811823020) - 723336008 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6811828027) - 723336008 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6811829024) - 723336008 -> 244384009 (363698007) View
363698007 \|Finding site (attribute)\|	244384009 \|Entire right cardiac ventricle (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6811830025) - 723336008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6811831026) - 723336008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6814825028) - 723336008 -> 30812002 (116676008) View
116676008 \|Associated morphology (attribute)\|	30812002 \|Overriding structures (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6814826027) - 723336008 -> 113262008 (363698007) View
363698007 \|Finding site (attribute)\|	113262008 \|Thoracic aorta structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6828962022) - 723336008 -> 15825003 (363698007) View
363698007 \|Finding site (attribute)\|	15825003 \|Aortic structure (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6836809025) - 723336008 -> 415582006 (116676008) View
116676008 \|Associated morphology (attribute)\|	415582006 \|Stenosis (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6836810024) - 723336008 -> 39057004 (363698007) View
363698007 \|Finding site (attribute)\|	39057004 \|Pulmonary valve structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9312130022) - 723336008 -> 244384009 (363698007) View
363698007 \|Finding site (attribute)\|	244384009 \|Entire right cardiac ventricle (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9312131021) - 723336008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9312133024) - 723336008 -> 113262008 (363698007) View
363698007 \|Finding site (attribute)\|	113262008 \|Thoracic aorta structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9312134029) - 723336008 -> 56246009 (116676008) View
116676008 \|Associated morphology (attribute)\|	56246009 \|Hypertrophy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9312135028) - 723336008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9312136027) - 723336008 -> 30812002 (116676008) View
116676008 \|Associated morphology (attribute)\|	30812002 \|Overriding structures (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9313940028) - 723336008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9315285023) - 723336008 -> 39057004 (363698007) View
363698007 \|Finding site (attribute)\|	39057004 \|Pulmonary valve structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9315287026) - 723336008 -> 415582006 (116676008) View
116676008 \|Associated morphology (attribute)\|	415582006 \|Stenosis (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811821022) - 723336008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811822026) - 723336008 -> 86299006 (116680003) View
116680003 \|Is a (attribute)\|	86299006 \|Tetralogy of fallot (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811824025) - 723336008 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6811825029) - 723336008 -> 444896005 (116680003) View
116680003 \|Is a (attribute)\|	444896005 \|Growth retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6828959024) - 723336008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	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
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
444896005 View
444896005	Growth retardation (disorder)	Growth retardation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
86299006 View
86299006	Tetralogy of fallot (disorder)	Tứ chứng fallot	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular 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 (789bb437-6e47-5e90-b2f8-cac377115b46) 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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