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Terminology chevron_right Concepts chevron_right 766812005

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Component

766812005

The component that hold information about this concept.

Fully Specified Name (FSN)

Trichodysplasia xeroderma syndrome (disorder)

Shortest Term

Trichodysplasia xeroderma 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

Trichodysplasia xeroderma syndrome (disorder)

SCTID: 766812005, Primitive, Active

766812005|Trichodysplasia xeroderma syndrome (disorder)|

en Trichodysplasia xeroderma syndrome
en Trichodysplasia xeroderma syndrome (disorder)

Expression

766812005 |Trichodysplasia xeroderma syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
52475004 |Xeroderma (disorder)| + 
65033000 |Congenital anomaly of hair (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
402774006 |Genetic defect of hair shaft (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 364532007 |Moistness of skin (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 37111008 |Hair shaft structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
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
3662698016 - Trichodysplasia xeroderma syndrome (en) View
3662698016	en	Synonym (core metadata concept)	Trichodysplasia xeroderma syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3662697014 - Trichodysplasia xeroderma syndrome (disorder) (en) View
3662697014	en	Fully specified name (core metadata concept)	Trichodysplasia xeroderma syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11439915024) - 766812005 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15551729027) - 766812005 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15551730021) - 766812005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299102027) - 766812005 -> 44138005 (363714003) View
363714003 \|Interprets (attribute)\|	44138005 \|Keratinization, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299107022) - 766812005 -> 263654008 (363713009) View
363713009 \|Has interpretation (attribute)\|	263654008 \|Abnormal (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299110026) - 766812005 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11265095023) - 766812005 -> 254214009 (116680003) View
116680003 \|Is a (attribute)\|	254214009 \|Inherited disorder of keratinization (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15291113026) - 766812005 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069945027) - 766812005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11367637029) - 766812005 -> 254666005 (116680003) View
116680003 \|Is a (attribute)\|	254666005 \|Keratosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299103021) - 766812005 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299104026) - 766812005 -> 364532007 (363714003) View
363714003 \|Interprets (attribute)\|	364532007 \|Moistness of skin (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299106029) - 766812005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299111027) - 766812005 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9301021023) - 766812005 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519716021) - 766812005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519717028) - 766812005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9299109020) - 766812005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519718022) - 766812005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299100024) - 766812005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299101023) - 766812005 -> 52475004 (116680003) View
116680003 \|Is a (attribute)\|	52475004 \|Xeroderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299105025) - 766812005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9299108028) - 766812005 -> 402774006 (116680003) View
116680003 \|Is a (attribute)\|	402774006 \|Genetic defect of hair shaft (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
52475004 View
52475004	Xeroderma (disorder)	Dry skin	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
402774006 View
402774006	Genetic defect of hair shaft (disorder)	Genetic defect of hair shaft	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65033000 View
65033000	Congenital anomaly of hair (disorder)	Congenital anomaly of hair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	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 (26f0db02-8cf9-563b-b79e-124fe9650c7b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q80.8	TRUE	ALWAYS Q80.8	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 (333b48af-aaaa-587a-a4be-a522a73eac0d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q84.2	TRUE	ALWAYS Q84.2	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 (785af455-7d93-563a-a1a6-c7f35a5960da) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	L67.8	TRUE	ALWAYS L67.8 \| 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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