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Terminology chevron_right Concepts chevron_right 773769008

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Component

773769008

The component that hold information about this concept.

Fully Specified Name (FSN)

Ataxia, photosensitivity, short stature syndrome (disorder)

Shortest Term

Fenton wilkinson toselano 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

Ataxia, photosensitivity, short stature syndrome (disorder)

SCTID: 773769008, Primitive, Active

773769008|Ataxia, photosensitivity, short stature syndrome (disorder)|

en Ataxia, photosensitivity, short stature syndrome
en Ataxia, photosensitivity, short stature syndrome (disorder)
en Fenton wilkinson toselano syndrome

Expression

773769008 |Ataxia, photosensitivity, short stature syndrome (disorder)|
 <<< 20262006 |Ataxia (finding)| + 
403731002 |Disorder of skin caused by radiation (disorder)| + 
237836003 |Short stature disorder (disorder)| + 
90128006 |Photosensitivity (finding)| + 
82354003 |Multiple system malformation syndrome (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)| }
        { 246075003 |Causative agent (attribute)| = 56242006 |Light, electromagnetic radiation (physical force)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (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)| }
        { 363713009 |Has interpretation (attribute)| = 263654008 |Abnormal (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3726290016 - Ataxia, photosensitivity, short stature syndrome (en) View
3726290016	en	Synonym (core metadata concept)	Ataxia, photosensitivity, short stature syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3726292012 - Ataxia, photosensitivity, short stature syndrome (disorder) (en) View
3726292012	en	Fully specified name (core metadata concept)	Ataxia, photosensitivity, short stature syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3726291017 - Fenton Wilkinson Toselano syndrome (en) View
3726291017	en	Synonym (core metadata concept)	Fenton Wilkinson Toselano syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (10618832021) - 773769008 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13618021029) - 773769008 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316662029) - 773769008 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16100914021) - 773769008 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618829023) - 773769008 -> 373591006 (116680003) View
116680003 \|Is a (attribute)\|	373591006 \|Disorders of skin caused by physical agents (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16017746020) - 773769008 -> 403731002 (116680003) View
116680003 \|Is a (attribute)\|	403731002 \|Disorder of skin caused by radiation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094824027) - 773769008 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094825026) - 773769008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096189023) - 773769008 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096190025) - 773769008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618831025) - 773769008 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10618835023) - 773769008 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13070019029) - 773769008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13617258023) - 773769008 -> 20262006 (116680003) View
116680003 \|Is a (attribute)\|	20262006 \|Ataxia (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280649022) - 773769008 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618828026) - 773769008 -> 56242006 (246075003) View
246075003 \|Causative agent (attribute)\|	56242006 \|Light, electromagnetic radiation (physical force)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618830029) - 773769008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618833027) - 773769008 -> 237836003 (116680003) View
116680003 \|Is a (attribute)\|	237836003 \|Short stature disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618834022) - 773769008 -> 90128006 (116680003) View
116680003 \|Is a (attribute)\|	90128006 \|Photosensitivity (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618836024) - 773769008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618837026) - 773769008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618838020) - 773769008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618839028) - 773769008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	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
403731002 View
403731002	Disorder of skin caused by radiation (disorder)	Radiation-induced dermatosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
90128006 View
90128006	Photosensitivity (finding)	Photoallergy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
20262006 View
20262006	Ataxia (finding)	Ataxia	900000000000074008 \|Necessary but not sufficient concept 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
237836003 View
237836003	Short stature disorder (disorder)	Dwarf	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 (5c76c22c-d6bc-5892-8888-e5dd37119674) 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)\|
ExtendedMap object (ce852f40-7df4-5b70-8e8b-2ecad403f16d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1 \| 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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