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Terminology chevron_right Concepts chevron_right 402774006

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Component

402774006

The component that hold information about this concept.

Fully Specified Name (FSN)

Genetic defect of hair shaft (disorder)

Shortest Term

Genetic defect of hair shaft

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Genetic defect of hair shaft (disorder)

SCTID: 402774006, Defined, Active

402774006|Genetic defect of hair shaft (disorder)|

en Genetic abnormality of hair shaft
en Genetic defect of hair shaft
en Genetic defect of hair shaft (disorder)

Expression

402774006 |Genetic defect of hair shaft (disorder)|
 === 267811000 |Disorder of hair shaft (disorder)| + 
782964007 |Genetic disease (disorder)| : 
        { 363698007 |Finding site (attribute)| = 37111008 |Hair shaft structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3662700013 - Genetic abnormality of hair shaft (en) View
3662700013	en	Synonym (core metadata concept)	Genetic abnormality of hair shaft	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1781868019 - Genetic defect of hair shaft (en) View
1781868019	en	Synonym (core metadata concept)	Genetic defect of hair shaft	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1770698014 - Genetic defect of hair shaft (disorder) (en) View
1770698014	en	Fully specified name (core metadata concept)	Genetic defect of hair shaft (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2248941028) - 402774006 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6147649024) - 402774006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533361022) - 402774006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11439975028) - 402774006 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11439977020) - 402774006 -> 95324001 (116680003) View
116680003 \|Is a (attribute)\|	95324001 \|Skin lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533360023) - 402774006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11439976027) - 402774006 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3362427025) - 402774006 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6019312024) - 402774006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6019313025) - 402774006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6019314020) - 402774006 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3362428024) - 402774006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973863029) - 402774006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973864024) - 402774006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4991692027) - 402774006 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2288110027) - 402774006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2288107023) - 402774006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2640688024) - 402774006 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2248940027) - 402774006 -> 279425004 (116680003) View
116680003 \|Is a (attribute)\|	279425004 \|Disorder of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2288108029) - 402774006 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2288109021) - 402774006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2565375021) - 402774006 -> 267811000 (116680003) View
116680003 \|Is a (attribute)\|	267811000 \|Disorder of hair shaft (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
782964007 View
782964007	Genetic disease (disorder)	Genetic disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
267811000 View
267811000	Disorder of hair shaft (disorder)	Disorder of hair shaft	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
766812005 View
766812005	Trichodysplasia xeroderma syndrome (disorder)	Trichodysplasia xeroderma syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723551003 View
723551003	Trichothiodystrophy (disorder)	Trichothiodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
67817003 View
67817003	Björnstad syndrome (disorder)	Björnstad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254231002 View
254231002	Congenital woolly hair (disorder)	Congenital wooly hair	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
312514006 View
312514006	Netherton's syndrome (disorder)	Netherton syndrome	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 (f936ba17-ed6e-5d56-94f7-7027d0bd08fb) 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)\|

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