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Terminology chevron_right Concepts chevron_right 403794008

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Component

403794008

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal dominant familial woolly hair (disorder)

Shortest Term

Autosomal dominant familial wooly hair

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

Autosomal dominant familial woolly hair (disorder)

SCTID: 403794008, Defined, Active

403794008|Autosomal dominant familial woolly hair (disorder)|

en Autosomal dominant familial wooly hair
en Autosomal dominant familial wooly hair (disorder)
en Autosomal dominant familial woolly hair

Expression

403794008 |Autosomal dominant familial woolly hair (disorder)|
 === 254231002 |Congenital woolly hair (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 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
1771720011 - Autosomal dominant familial woolly hair (disorder) (en) View
1771720011	en	Fully specified name (core metadata concept)	Autosomal dominant familial woolly hair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3779274017 - Autosomal dominant familial wooly hair (en) View
3779274017	en	Synonym (core metadata concept)	Autosomal dominant familial wooly hair	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3779273011 - Autosomal dominant familial wooly hair (disorder) (en) View
3779273011	en	Fully specified name (core metadata concept)	Autosomal dominant familial wooly hair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1782804018 - Autosomal dominant familial woolly hair (en) View
1782804018	en	Synonym (core metadata concept)	Autosomal dominant familial woolly hair	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13070036021) - 403794008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3326612022) - 403794008 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4971111027) - 403794008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4971112023) - 403794008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028660025) - 403794008 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6148671027) - 403794008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519393026) - 403794008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519394021) - 403794008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2291064024) - 403794008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3326611026) - 403794008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028658027) - 403794008 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5028659024) - 403794008 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2291062023) - 403794008 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2641235025) - 403794008 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2291061027) - 403794008 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2291063029) - 403794008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2250477023) - 403794008 -> 254231002 (116680003) View
116680003 \|Is a (attribute)\|	254231002 \|Congenital woolly hair (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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	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
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 (3f750f31-381f-5005-8f4c-e64fcec556dd) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q84.1	TRUE	ALWAYS Q84.1	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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