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Terminology chevron_right Concepts chevron_right 723551003

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Component

723551003

The component that hold information about this concept.

Fully Specified Name (FSN)

Trichothiodystrophy (disorder)

Shortest Term

Trichothiodystrophy

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

Trichothiodystrophy (disorder)

SCTID: 723551003, Primitive, Active

723551003|Trichothiodystrophy (disorder)|

en Trichothiodystrophy
en Trichothiodystrophy (disorder)

Expression

723551003 |Trichothiodystrophy (disorder)|
 <<< 8654005 |Ectodermal dysplasia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
402774006 |Genetic defect of hair shaft (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
65033000 |Congenital anomaly of hair (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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
3425069019 - Trichothiodystrophy (en) View
3425069019	en	Synonym (core metadata concept)	Trichothiodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3425068010 - Trichothiodystrophy (disorder) (en) View
3425068010	en	Fully specified name (core metadata concept)	Trichothiodystrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (11439970022) - 723551003 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15551294029) - 723551003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15551742027) - 723551003 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069435020) - 723551003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829045023) - 723551003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6832870025) - 723551003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515872025) - 723551003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515873024) - 723551003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515874029) - 723551003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515875028) - 723551003 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515877020) - 723551003 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515878026) - 723551003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10545326027) - 723551003 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545328026) - 723551003 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11439969021) - 723551003 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829044022) - 723551003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829048020) - 723551003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6829051029) - 723551003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6830454026) - 723551003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6830455025) - 723551003 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6832871026) - 723551003 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6832872022) - 723551003 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515876027) - 723551003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515879023) - 723551003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515880021) - 723551003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515881020) - 723551003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829040029) - 723551003 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829041025) - 723551003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829042021) - 723551003 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6829043027) - 723551003 -> 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
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
8654005 View
8654005	Ectodermal dysplasia (disorder)	Ectodermal dysplasia	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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
1003381002 View
1003381002	Onycho-tricho-dysplasia neutropenia syndrome (disorder)	Trichothiodystrophy type g	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003920007 View
1003920007	Sabinas brittle hair syndrome (disorder)	Sabinas brittle hair syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403781006 View
403781006	Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder)	Pibids syndrome, photosensitivity with ibids	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403796005 View
403796005	Brittle hair-impaired intellect-decreased fertility-short stature syndrome (disorder)	Bids syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238736006 View
238736006	Clastothrix (disorder)	Clastothrix	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (6d0f697f-a5d4-594f-8807-4a72e6aa323e) 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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