dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 440350001

Production

add

Component

440350001

The component that hold information about this concept.

Fully Specified Name (FSN)

Fibroblast growth factor receptor 3-related craniosynostosis (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

Fibroblast growth factor receptor 3-related craniosynostosis (disorder)

SCTID: 440350001, Primitive, Active

440350001|Fibroblast growth factor receptor 3-related craniosynostosis (disorder)|

en Fibroblast growth factor receptor 3-related craniosynostosis
en Fibroblast growth factor receptor 3-related craniosynostosis (disorder)
en Fibroblast growth factor receptor 3 (fgfr3) related craniosynostosis

Expression

440350001 |Fibroblast growth factor receptor 3-related craniosynostosis (disorder)|
 <<< 57219006 |Craniosynostosis syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 1297034009 |Premature fusion (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 51863000 |Joint structure of 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
2792567015 - Muenke syndrome (en) View
2792567015	en	Synonym (core metadata concept)	Muenke syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
2792566012 - Fibroblast growth factor receptor 3-related craniosynostosis (en) View
2792566012	en	Synonym (core metadata concept)	Fibroblast growth factor receptor 3-related craniosynostosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2789776013 - Fibroblast growth factor receptor 3-related craniosynostosis (disorder) (en) View
2789776013	en	Fully specified name (core metadata concept)	Fibroblast growth factor receptor 3-related craniosynostosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
2794177011 - Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis (en) View
2794177011	en	Synonym (core metadata concept)	Fibroblast growth factor receptor 3 (FGFR3) related craniosynostosis	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3609506020) - 440350001 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15839108021) - 440350001 -> 1297034009 (116676008) View
116676008 \|Associated morphology (attribute)\|	1297034009 \|Premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3593901025) - 440350001 -> 29012004 (363698007) View
363698007 \|Finding site (attribute)\|	29012004 \|Structure of coronal suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989431025) - 440350001 -> 237513002 (116680003) View
116680003 \|Is a (attribute)\|	237513002 \|Congenital anomaly of bone and joint (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524618029) - 440350001 -> 51655004 (116680003) View
116680003 \|Is a (attribute)\|	51655004 \|Congenital anomaly of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13025811025) - 440350001 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4972485022) - 440350001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5026572022) - 440350001 -> 371521007 (116680003) View
116680003 \|Is a (attribute)\|	371521007 \|Disorder of bone development (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5026573028) - 440350001 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5026574023) - 440350001 -> 51863000 (363698007) View
363698007 \|Finding site (attribute)\|	51863000 \|Joint structure of suture of skull (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10524617023) - 440350001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10524619021) - 440350001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4989432021) - 440350001 -> 248387005 (116680003) View
116680003 \|Is a (attribute)\|	248387005 \|Cranial suture finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4989433027) - 440350001 -> 118945008 (116680003) View
116680003 \|Is a (attribute)\|	118945008 \|Disorder of skull (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3529211026) - 440350001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3529212022) - 440350001 -> 67798003 (116676008) View
116676008 \|Associated morphology (attribute)\|	67798003 \|Congenital premature fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3554565028) - 440350001 -> 29012004 (363698007) View
363698007 \|Finding site (attribute)\|	29012004 \|Structure of coronal suture of skull (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3505290025) - 440350001 -> 57219006 (116680003) View
116680003 \|Is a (attribute)\|	57219006 \|Craniosynostosis syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
57219006 View
57219006	Craniosynostosis syndrome (disorder)	Craniostosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
787407003 View
787407003	Muenke syndrome (disorder)	Muenke syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702361006 View
702361006	Crouzon syndrome with acanthosis nigricans (disorder)	Crouzonodermoskeletal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (02a1c3c8-3af8-58b3-932d-8407f18048ed) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q75.8	TRUE	ALWAYS Q75.8	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)\|

Terminology chevron_right Concepts chevron_right 440350001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches