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Terminology chevron_right Concepts chevron_right 702356009

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Component

702356009

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)

Shortest Term

Ppm-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

X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)

SCTID: 702356009, Primitive, Active

702356009|X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)|

en Lindsay burn syndrome
en X-linked intellectual disability-psychosis-macroorchidism syndrome
en X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)
en Ppmx - mental retardation with psychosis, pyramidal signs, and macroorchidism
en Ppm-x syndrome
en X-linked mental retardation, syndromic 13

Expression

702356009 |X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)|
 <<< 363235000 |Hereditary disorder of nervous system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1162984000 |X-linked dominant hereditary disease (disorder)| + 
1296869000 |Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)| + 
23853001 |Disorder of the central nervous system (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
1137472008 |Neurodevelopmental delay (disorder)| : 
        { 363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)| }
        { 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)| }
        { 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
3787303010 - Lindsay Burn syndrome (en) View
3787303010	en	Synonym (core metadata concept)	Lindsay Burn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3643100018 - X-linked intellectual disability-psychosis-macroorchidism syndrome (en) View
3643100018	en	Synonym (core metadata concept)	X-linked intellectual disability-psychosis-macroorchidism syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3643099014 - X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder) (en) View
3643099014	en	Fully specified name (core metadata concept)	X-linked intellectual disability-psychosis-macroorchidism syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2995491015 - X-linked mental retardation, syndromic 13 (disorder) (en) View
2995491015	en	Fully specified name (core metadata concept)	X-linked mental retardation, syndromic 13 (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2995082012 - PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism (en) View
2995082012	en	Synonym (core metadata concept)	PPMX - Mental retardation with psychosis, pyramidal signs, and macroorchidism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2995755011 - PPM-X syndrome (en) View
2995755011	en	Synonym (core metadata concept)	PPM-X syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2995223012 - X-linked mental retardation, syndromic 13 (en) View
2995223012	en	Synonym (core metadata concept)	X-linked mental retardation, syndromic 13	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12089158023) - 702356009 -> 248290002 (116680003) View
116680003 \|Is a (attribute)\|	248290002 \|Developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16407827022) - 702356009 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9127756028) - 702356009 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316582020) - 702356009 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5040393020) - 702356009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089157029) - 702356009 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089159026) - 702356009 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089160020) - 702356009 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089162028) - 702356009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15819102028) - 702356009 -> 1296869000 (116680003) View
116680003 \|Is a (attribute)\|	1296869000 \|Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819103022) - 702356009 -> 23853001 (116680003) View
116680003 \|Is a (attribute)\|	23853001 \|Disorder of the central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819104027) - 702356009 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15819105026) - 702356009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094592025) - 702356009 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094593024) - 702356009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095957024) - 702356009 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095958025) - 702356009 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968128024) - 702356009 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14023167025) - 702356009 -> 1162984000 (116680003) View
116680003 \|Is a (attribute)\|	1162984000 \|X-linked dominant hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069805024) - 702356009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5040392026) - 702356009 -> 702450004 (116680003) View
116680003 \|Is a (attribute)\|	702450004 \|Congenital variant of rett syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5040394025) - 702356009 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11575119022) - 702356009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12089161024) - 702356009 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1296869000 View
1296869000	Methyl-cytosine phosphate guanine binding protein-2 related disorder (disorder)	Mecp2 related disorder	900000000000074008 \|Necessary but not sufficient concept 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
23853001 View
23853001	Disorder of the central nervous system (disorder)	Encephalomyeloneuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (f4762337-95f6-5a1c-9f10-38098b2ea7ee) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	F71.1	TRUE	ALWAYS F71.1 \| 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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