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Terminology chevron_right Concepts chevron_right 422437002

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Component

422437002

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked intellectual disability with marfanoid habitus (disorder)

Shortest Term

Lujan-fryns 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

X-linked intellectual disability with marfanoid habitus (disorder)

SCTID: 422437002, Primitive, Active

422437002|X-linked intellectual disability with marfanoid habitus (disorder)|

en Lujan-fryns syndrome
en X-linked intellectual disability with marfanoid habitus
en X-linked intellectual disability with marfanoid habitus (disorder)
en X-linked mental retardation with marfanoid habitus syndrome

Expression

422437002 |X-linked intellectual disability with marfanoid habitus (disorder)|
 <<< 1362108000 |Genetic intellectual disability (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
248298009 |Marfanoid physique (finding)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| : 
        { 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)| }
        { 363714003 |Interprets (attribute)| = 248295007 |Physique type (observable entity)| }
        { 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
2649528010 - Lujan-Fryns syndrome (en) View
2649528010	en	Synonym (core metadata concept)	Lujan-Fryns syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3643151012 - X-linked intellectual disability with marfanoid habitus (en) View
3643151012	en	Synonym (core metadata concept)	X-linked intellectual disability with marfanoid habitus	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3643150013 - X-linked intellectual disability with marfanoid habitus (disorder) (en) View
3643150013	en	Fully specified name (core metadata concept)	X-linked intellectual disability with marfanoid habitus (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2641858014 - X-linked mental retardation with marfanoid habitus syndrome (disorder) (en) View
2641858014	en	Fully specified name (core metadata concept)	X-linked mental retardation with marfanoid habitus syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2645975014 - X-linked mental retardation with marfanoid habitus syndrome (en) View
2645975014	en	Synonym (core metadata concept)	X-linked mental retardation with marfanoid habitus syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9127559022) - 422437002 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316574020) - 422437002 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094570029) - 422437002 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094571025) - 422437002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095935028) - 422437002 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095936027) - 422437002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3011828028) - 422437002 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14022535026) - 422437002 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14022536025) - 422437002 -> 248298009 (116680003) View
116680003 \|Is a (attribute)\|	248298009 \|Marfanoid physique (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14022537023) - 422437002 -> 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 (14022538029) - 422437002 -> 248295007 (363714003) View
363714003 \|Interprets (attribute)\|	248295007 \|Physique type (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14022539021) - 422437002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14022540023) - 422437002 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14022541022) - 422437002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069035027) - 422437002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11572482021) - 422437002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3011827022) - 422437002 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	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
1162976004 View
1162976004	X-linked recessive hereditary disease (disorder)	X-linked recessive 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
248298009 View
248298009	Marfanoid physique (finding)	Marfanoid physique	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 (1084b66c-7f49-5484-be06-6d923a5b1312) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.4	TRUE	ALWAYS Q87.4	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 (16aeb034-f21b-55ec-8050-4bb6ae14e842) 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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