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Terminology chevron_right Concepts chevron_right 613003

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Component

613003

The component that hold information about this concept.

Fully Specified Name (FSN)

Fragile x syndrome (disorder)

Shortest Term

Marker x 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

Fragile x syndrome (disorder)

SCTID: 613003, Primitive, Active

613003|Fragile x syndrome (disorder)|

en Fraxa (fragile x) syndrome
en Fragile x syndrome
en Fragile x syndrome (disorder)
en Marker x syndrome
en Martin-bell syndrome

Expression

613003 |Fragile x syndrome (disorder)|
 <<< 1362108000 |Genetic intellectual disability (disorder)| + 
205720009 |Fragile x chromosome (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162984000 |X-linked dominant hereditary disease (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)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5244212011 - FRAXA (fragile X) syndrome (en) View
5244212011	en	Synonym (core metadata concept)	FRAXA (fragile X) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1232202017 - FRAXA - Fragile X syndrome (en) View
1232202017	en	Synonym (core metadata concept)	FRAXA - Fragile X syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
2090010 - Fragile X syndrome (en) View
2090010	en	Synonym (core metadata concept)	Fragile X syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
800348018 - Fragile X syndrome (disorder) (en) View
800348018	en	Fully specified name (core metadata concept)	Fragile X syndrome (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
2092019 - Marker X syndrome (en) View
2092019	en	Synonym (core metadata concept)	Marker X syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2091014 - Martin-Bell syndrome (en) View
2091014	en	Synonym (core metadata concept)	Martin-Bell syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12086915024) - 613003 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316568020) - 613003 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094556029) - 613003 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094557022) - 613003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095921025) - 613003 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095922021) - 613003 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086910025) - 613003 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14011005029) - 613003 -> 1162984000 (116680003) View
116680003 \|Is a (attribute)\|	1162984000 \|X-linked dominant hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13068979021) - 613003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (247803025) - 613003 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (247804020) - 613003 -> 74345006 (116680003) View
116680003 \|Is a (attribute)\|	74345006 \|Congenital disorder due to abnormality of chromosome number or structure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5007692021) - 613003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5013037021) - 613003 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12086911026) - 613003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086912022) - 613003 -> 72837006 (363698007) View
363698007 \|Finding site (attribute)\|	72837006 \|Sex chromosome x (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086913028) - 613003 -> 205720009 (116680003) View
116680003 \|Is a (attribute)\|	205720009 \|Fragile x chromosome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086914023) - 613003 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086916020) - 613003 -> 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)\|	True
Relationship (12086917027) - 613003 -> 107675007 (116676008) View
116676008 \|Associated morphology (attribute)\|	107675007 \|Chromosomal morphology (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5021581026) - 613003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528728024) - 613003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (826650026) - 613003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2268580023) - 613003 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995389027) - 613003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5007694022) - 613003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5013036028) - 613003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3360520022) - 613003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3446388027) - 613003 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598903026) - 613003 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2598904021) - 613003 -> 312237004 (363698007) View
363698007 \|Finding site (attribute)\|	312237004 \|Chromosome structure (cell structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (826651027) - 613003 -> 41669009 (116676008) View
116676008 \|Associated morphology (attribute)\|	41669009 \|Alteration of chromosome structure (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1162984000 View
1162984000	X-linked dominant hereditary disease (disorder)	X-linked dominant hereditary disease	900000000000074008 \|Necessary but not sufficient concept 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
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
205720009 View
205720009	Fragile x chromosome (disorder)	Fragile x chromosome	900000000000074008 \|Necessary but not sufficient concept 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 (0ee23b64-4c68-52b2-a5c8-e8410659cdcb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q99.2	TRUE	ALWAYS Q99.2 \| 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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