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Terminology chevron_right Concepts chevron_right 787407003

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Component

787407003

The component that hold information about this concept.

Fully Specified Name (FSN)

Muenke syndrome (disorder)

Shortest Term

Muenke 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

Muenke syndrome (disorder)

SCTID: 787407003, Primitive, Active

787407003|Muenke syndrome (disorder)|

en Muenke syndrome
en Muenke syndrome (disorder)

Expression

787407003 |Muenke syndrome (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
440350001 |Fibroblast growth factor receptor 3-related craniosynostosis (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1003586008 |Congenital synostosis of coronal suture of skull (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 29012004 |Structure of coronal suture of skull (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
3775317012 - Muenke syndrome (en) View
3775317012	en	Synonym (core metadata concept)	Muenke syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3775318019 - Muenke syndrome (disorder) (en) View
3775318019	en	Fully specified name (core metadata concept)	Muenke syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13917421024) - 787407003 -> 298364001 (116680003) View
116680003 \|Is a (attribute)\|	298364001 \|Finding of head region (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16293420027) - 787407003 -> 1003586008 (116680003) View
116680003 \|Is a (attribute)\|	1003586008 \|Congenital synostosis of coronal suture of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544517028) - 787407003 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839167025) - 787407003 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13025812021) - 787407003 -> 237513002 (116680003) View
116680003 \|Is a (attribute)\|	237513002 \|Congenital anomaly of bone and joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13025813027) - 787407003 -> 51655004 (116680003) View
116680003 \|Is a (attribute)\|	51655004 \|Congenital anomaly of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069775029) - 787407003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544512023) - 787407003 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544513029) - 787407003 -> 440350001 (116680003) View
116680003 \|Is a (attribute)\|	440350001 \|Fibroblast growth factor receptor 3-related craniosynostosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544514024) - 787407003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544515020) - 787407003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544516021) - 787407003 -> 29012004 (363698007) View
363698007 \|Finding site (attribute)\|	29012004 \|Structure of coronal suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11544518022) - 787407003 -> 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
1003586008 View
1003586008	Congenital synostosis of coronal suture of skull (disorder)	Congenital coronal craniosynostosis	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
440350001 View
440350001	Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	Muenke syndrome	900000000000074008 \|Necessary but not sufficient concept 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
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 (793fb65f-757d-58a7-89e4-4e9bdc659c62) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0 \| 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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