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Terminology chevron_right Concepts chevron_right 721095007

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Component

721095007

The component that hold information about this concept.

Fully Specified Name (FSN)

Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)

Shortest Term

Froster huch 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 defect, limb deficiency, skull defect syndrome (disorder)

SCTID: 721095007, Primitive, Active

721095007|Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)|

vi Khiếm khuyết cơ hoành, thiếu chi, hội chứng khuyết sọ
en Diaphragmatic defect, limb deficiency, skull defect syndrome
en Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)
en Froster huch syndrome

Expression

721095007 |Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
447821002 |Congenital posterolateral diaphragmatic hernia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
80825009 |Congenital hypoplasia of lung (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 414402003 |Hernial opening (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 1370988005 |Persistent foramen of bochdalek (morphologic abnormality)|,
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)| = 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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
491701000003115 - khiếm khuyết cơ hoành, thiếu chi, hội chứng khuyết sọ (vi) View
491701000003115	vi	Synonym (core metadata concept)	khiếm khuyết cơ hoành, thiếu chi, hội chứng khuyết sọ	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	None	True
3323482019 - Diaphragmatic defect, limb deficiency, skull defect syndrome (en) View
3323482019	en	Synonym (core metadata concept)	Diaphragmatic defect, limb deficiency, skull defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323481014 - Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder) (en) View
3323481014	en	Fully specified name (core metadata concept)	Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323483012 - Froster Huch syndrome (en) View
3323483012	en	Synonym (core metadata concept)	Froster Huch syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10548758024) - 721095007 -> 89413009 (363698007) View
363698007 \|Finding site (attribute)\|	89413009 \|Structure of foramen of bochdalek (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16409592023) - 721095007 -> 1370988005 (363698007) View
363698007 \|Finding site (attribute)\|	1370988005 \|Persistent foramen of bochdalek (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522037024) - 721095007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522044026) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10538610023) - 721095007 -> 233745009 (116680003) View
116680003 \|Is a (attribute)\|	233745009 \|Defect of diaphragm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10548759027) - 721095007 -> 5798000 (363698007) View
363698007 \|Finding site (attribute)\|	5798000 \|Diaphragm structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10548760021) - 721095007 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13266003026) - 721095007 -> 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 (15400257027) - 721095007 -> 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 (12171149024) - 721095007 -> 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 (13069307020) - 721095007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522040024) - 721095007 -> 19203006 (363698007) View
363698007 \|Finding site (attribute)\|	19203006 \|Structure of abdominal viscus (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754362024) - 721095007 -> 86417009 (116680003) View
116680003 \|Is a (attribute)\|	86417009 \|Congenital hernia of foramen of bochdalek (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754365021) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754368023) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754371026) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754373028) - 721095007 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754374023) - 721095007 -> 5798000 (363698007) View
363698007 \|Finding site (attribute)\|	5798000 \|Diaphragm structure (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754375024) - 721095007 -> 414403008 (116676008) View
116676008 \|Associated morphology (attribute)\|	414403008 \|Herniated structure (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754376020) - 721095007 -> 19203006 (363698007) View
363698007 \|Finding site (attribute)\|	19203006 \|Structure of abdominal viscus (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6757626022) - 721095007 -> 5798000 (363698007) View
363698007 \|Finding site (attribute)\|	5798000 \|Diaphragm structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760067029) - 721095007 -> 414402003 (116676008) View
116676008 \|Associated morphology (attribute)\|	414402003 \|Hernial opening (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760068023) - 721095007 -> 89413009 (363698007) View
363698007 \|Finding site (attribute)\|	89413009 \|Structure of foramen of bochdalek (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760069026) - 721095007 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6760070025) - 721095007 -> 39607008 (363698007) View
363698007 \|Finding site (attribute)\|	39607008 \|Lung structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6762312026) - 721095007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10522035027) - 721095007 -> 414403008 (116676008) View
116676008 \|Associated morphology (attribute)\|	414403008 \|Herniated structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522036026) - 721095007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522039022) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10522041023) - 721095007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538612026) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10538614025) - 721095007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548757025) - 721095007 -> 414402003 (116676008) View
116676008 \|Associated morphology (attribute)\|	414402003 \|Hernial opening (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548761020) - 721095007 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548762029) - 721095007 -> 39607008 (363698007) View
363698007 \|Finding site (attribute)\|	39607008 \|Lung structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10551868020) - 721095007 -> 447821002 (116680003) View
116680003 \|Is a (attribute)\|	447821002 \|Congenital posterolateral diaphragmatic hernia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754359021) - 721095007 -> 80825009 (116680003) View
116680003 \|Is a (attribute)\|	80825009 \|Congenital hypoplasia of lung (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754360027) - 721095007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754361028) - 721095007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754363025) - 721095007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
447821002 View
447821002	Congenital posterolateral diaphragmatic hernia (disorder)	Pleuroperitoneal hernia	900000000000073002 \|Sufficiently defined by necessary conditions 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
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
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 (aae91c4b-5bbc-5b60-9ded-ea1645545805) 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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