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Terminology chevron_right Concepts chevron_right 702354007

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Component

702354007

The component that hold information about this concept.

Fully Specified Name (FSN)

X-linked intellectual developmental disorder christianson type (disorder)

Shortest Term

Christianson 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 developmental disorder christianson type (disorder)

SCTID: 702354007, Primitive, Active

702354007|X-linked intellectual developmental disorder christianson type (disorder)|

en X-linked angelman-like syndrome
en X-linked intellectual developmental disorder christianson type
en X-linked intellectual developmental disorder christianson type (disorder)
en Christianson syndrome

Expression

702354007 |X-linked intellectual developmental disorder christianson type (disorder)|
 <<< 1148757008 |Microcephaly (finding)| + 
1162976004 |X-linked recessive hereditary disease (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
85102008 |Cerebellar ataxia (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        { 363698007 |Finding site (attribute)| = 113305005 |Cerebellar structure (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4636956015 - X-linked Angelman-like syndrome (en) View
4636956015	en	Synonym (core metadata concept)	X-linked Angelman-like syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2995873019 - X-linked intellectual deficit, South African type (en) View
2995873019	en	Synonym (core metadata concept)	X-linked intellectual deficit, South African type	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
4636977017 - X-linked intellectual developmental disorder Christianson type (en) View
4636977017	en	Synonym (core metadata concept)	X-linked intellectual developmental disorder Christianson type	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4636976014 - X-linked intellectual developmental disorder Christianson type (disorder) (en) View
4636976014	en	Fully specified name (core metadata concept)	X-linked intellectual developmental disorder Christianson type (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
2995009018 - X-linked mental retardation syndrome, Christianson type (en) View
2995009018	en	Synonym (core metadata concept)	X-linked mental retardation syndrome, Christianson type	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
2995732013 - X-linked mental retardation syndrome, Christianson type (disorder) (en) View
2995732013	en	Fully specified name (core metadata concept)	X-linked mental retardation syndrome, Christianson type (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
2995300011 - Christianson syndrome (en) View
2995300011	en	Synonym (core metadata concept)	Christianson syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14023175020) - 702354007 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316581029) - 702354007 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094590022) - 702354007 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094591021) - 702354007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095955027) - 702354007 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15095956026) - 702354007 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4968122020) - 702354007 -> 128430005 (116680003) View
116680003 \|Is a (attribute)\|	128430005 \|X-linked hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14023176021) - 702354007 -> 1148757008 (116680003) View
116680003 \|Is a (attribute)\|	1148757008 \|Microcephaly (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023177028) - 702354007 -> 1162976004 (116680003) View
116680003 \|Is a (attribute)\|	1162976004 \|X-linked recessive hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023178022) - 702354007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023179025) - 702354007 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023180027) - 702354007 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023181028) - 702354007 -> 85102008 (116680003) View
116680003 \|Is a (attribute)\|	85102008 \|Cerebellar ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023182024) - 702354007 -> 113305005 (363698007) View
363698007 \|Finding site (attribute)\|	113305005 \|Cerebellar structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023183025) - 702354007 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023184020) - 702354007 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023185021) - 702354007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023186022) - 702354007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023187029) - 702354007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

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
1148757008 View
1148757008	Microcephaly (finding)	Microcephaly	900000000000073002 \|Sufficiently defined by necessary conditions 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
85102008 View
85102008	Cerebellar ataxia (disorder)	Cerebellar ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	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 (8f586c62-c905-5562-9117-77a17944587a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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