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Terminology chevron_right Concepts chevron_right 702432006

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Component

702432006

The component that hold information about this concept.

Fully Specified Name (FSN)

Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)

Shortest Term

Fryns 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

Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)

SCTID: 702432006, Primitive, Active

702432006|Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)|

vi Hội chứng fryns
en Diaphragmatic hernia, abnormal face and distal limb anomalies
en Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)
en Fryns syndrome

Expression

702432006 |Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)|
 <<< 80825009 |Congenital hypoplasia of lung (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
17190001 |Congenital diaphragmatic hernia (disorder)| + 
23359005 |Multiple malformation syndrome with facial-limb defects as major feature (disorder)| + 
1145384007 |Congenital hypoplasia of limb (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 414403008 |Herniated structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 818986006 |Structure of abdominopelvic cavity and/or content (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 414402003 |Hernial opening (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5798000 |Diaphragm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39607008 |Lung structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 66019005 |Limb structure (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
499391000003114 - hội chứng Fryns (vi) View
499391000003114	vi	Synonym (core metadata concept)	hội chứng Fryns	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
2995721013 - Diaphragmatic hernia, abnormal face and distal limb anomalies (en) View
2995721013	en	Synonym (core metadata concept)	Diaphragmatic hernia, abnormal face and distal limb anomalies	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2995571013 - Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) (en) View
2995571013	en	Fully specified name (core metadata concept)	Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2995610010 - Fryns syndrome (en) View
2995610010	en	Synonym (core metadata concept)	Fryns syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16315076020) - 702432006 -> 1145384007 (116680003) View
116680003 \|Is a (attribute)\|	1145384007 \|Congenital hypoplasia of limb (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089191025) - 702432006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12205297025) - 702432006 -> 363024001 (116680003) View
116680003 \|Is a (attribute)\|	363024001 \|Congenital anomaly of abdomen (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13265988027) - 702432006 -> 818983003 (363698007) View
363698007 \|Finding site (attribute)\|	818983003 \|Structure of abdominopelvic cavity and/or content of abdominopelvic cavity and/or anterior abdominal wall (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15400229023) - 702432006 -> 818986006 (363698007) View
363698007 \|Finding site (attribute)\|	818986006 \|Structure of abdominopelvic cavity and/or content (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12171136025) - 702432006 -> 818993005 (363698007) View
363698007 \|Finding site (attribute)\|	818993005 \|Structure of organ within abdominopelvic cavity (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069817021) - 702432006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968634029) - 702432006 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968635028) - 702432006 -> 48475001 (116680003) View
116680003 \|Is a (attribute)\|	48475001 \|Disorder of diaphragm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4968638026) - 702432006 -> 5798000 (363698007) View
363698007 \|Finding site (attribute)\|	5798000 \|Diaphragm structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997817028) - 702432006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089183023) - 702432006 -> 39607008 (363698007) View
363698007 \|Finding site (attribute)\|	39607008 \|Lung structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089184028) - 702432006 -> 66019005 (363698007) View
363698007 \|Finding site (attribute)\|	66019005 \|Limb structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089185027) - 702432006 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089186026) - 702432006 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089187024) - 702432006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089188025) - 702432006 -> 80825009 (116680003) View
116680003 \|Is a (attribute)\|	80825009 \|Congenital hypoplasia of lung (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089189022) - 702432006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089190029) - 702432006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089192021) - 702432006 -> 414403008 (116676008) View
116676008 \|Associated morphology (attribute)\|	414403008 \|Herniated structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089194022) - 702432006 -> 23359005 (116680003) View
116680003 \|Is a (attribute)\|	23359005 \|Multiple malformation syndrome with facial-limb defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089195023) - 702432006 -> 5798000 (363698007) View
363698007 \|Finding site (attribute)\|	5798000 \|Diaphragm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089196024) - 702432006 -> 414402003 (116676008) View
116676008 \|Associated morphology (attribute)\|	414402003 \|Hernial opening (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089197026) - 702432006 -> 17190001 (116680003) View
116680003 \|Is a (attribute)\|	17190001 \|Congenital diaphragmatic hernia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089198020) - 702432006 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089199028) - 702432006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089200025) - 702432006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089201026) - 702432006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12089202022) - 702432006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020810023) - 702432006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020811022) - 702432006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526320020) - 702432006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526321024) - 702432006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526322028) - 702432006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526323022) - 702432006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1145384007 View
1145384007	Congenital hypoplasia of limb (disorder)	Congenital hypoplasia of limb	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
17190001 View
17190001	Congenital diaphragmatic hernia (disorder)	Thoát vị hoành bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
23359005 View
23359005	Multiple malformation syndrome with facial-limb defects as major feature (disorder)	Multiple malformation syndrome with facial-limb defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80825009 View
80825009	Congenital hypoplasia of lung (disorder)	Rudimentary lung	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
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

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 (1a355aa5-dfe9-58a0-a762-5ae4a9ce7e68) 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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