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Terminology chevron_right Concepts chevron_right 205720009

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Component

205720009

The component that hold information about this concept.

Fully Specified Name (FSN)

Fragile x chromosome (disorder)

Shortest Term

Fragile x chromosome

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

Fragile x chromosome (disorder)

SCTID: 205720009, Primitive, Active

205720009|Fragile x chromosome (disorder)|

en Fragile x chromosome
en Fragile x chromosome (disorder)

Expression

205720009 |Fragile x chromosome (disorder)|
 <<< 111312006 |Anomaly of chromosome x (disorder)|
        { 116676008 |Associated morphology (attribute)| = 107675007 |Chromosomal morphology (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72837006 |Sex chromosome x (cell structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
315486012 - Fragile X chromosome (en) View
315486012	en	Synonym (core metadata concept)	Fragile X chromosome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
591126013 - Fragile X chromosome (disorder) (en) View
591126013	en	Fully specified name (core metadata concept)	Fragile X chromosome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5008818022) - 205720009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011352027) - 205720009 -> 107673000 (116676008) View
116676008 \|Associated morphology (attribute)\|	107673000 \|Cellular and/or subcellular abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5011353021) - 205720009 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6047005024) - 205720009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6047006020) - 205720009 -> 107675007 (116676008) View
116676008 \|Associated morphology (attribute)\|	107675007 \|Chromosomal morphology (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6047007027) - 205720009 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470375024) - 205720009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3316073024) - 205720009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3316072025) - 205720009 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470374023) - 205720009 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2569215021) - 205720009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23891029) - 205720009 -> 613003 (116680003) View
116680003 \|Is a (attribute)\|	613003 \|Fragile x syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2252088028) - 205720009 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (470373028) - 205720009 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23890028) - 205720009 -> 111312006 (116680003) View
116680003 \|Is a (attribute)\|	111312006 \|Anomaly of chromosome x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111312006 View
111312006	Anomaly of chromosome x (disorder)	Anomaly of chromosome x	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
716708005 View
716708005	Fraxf syndrome (disorder)	Fraxf syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716709002 View
716709002	Fraxe intellectual disability syndrome (disorder)	Fraxe intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
613003 View
613003	Fragile x syndrome (disorder)	Marker x 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 (81e0090d-30a5-52f4-8539-d8a3642cfd00) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	IFA 254287005 \| FRAXA (disorder) \|	SOURCE SNOMED CONCEPT IS AMBIGUOUS	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447640006 \|Source snomed concept is ambiguous (foundation metadata concept)\|
ExtendedMap object (a5111822-7aa9-52f1-9a90-0a4f71521265) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	-	IFA 254288000 \| FRAXE (disorder) \|	SOURCE SNOMED CONCEPT IS AMBIGUOUS	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447640006 \|Source snomed concept is ambiguous (foundation metadata concept)\|
ExtendedMap object (b5033d8e-288f-525f-98d9-893b3f8d3416) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.2	OTHERWISE TRUE	ALWAYS Q99.2	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)\|
ExtendedMap object (cc24b006-e850-5e32-8a36-50354e82f331) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.2	TRUE	ALWAYS Q99.2	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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