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Terminology chevron_right Concepts chevron_right 254231002

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Component

254231002

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital woolly hair (disorder)

Shortest Term

Congenital wooly hair

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

Congenital woolly hair (disorder)

SCTID: 254231002, Primitive, Active

254231002|Congenital woolly hair (disorder)|

en Congenital wooly hair
en Congenital wooly hair (disorder)
en Congenital woolly hair

Expression

254231002 |Congenital woolly hair (disorder)|
 <<< 65033000 |Congenital anomaly of hair (disorder)| + 
402774006 |Genetic defect of hair shaft (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
645093019 - Congenital woolly hair (disorder) (en) View
645093019	en	Fully specified name (core metadata concept)	Congenital woolly hair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3779272018 - Congenital wooly hair (en) View
3779272018	en	Synonym (core metadata concept)	Congenital wooly hair	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3779271013 - Congenital wooly hair (disorder) (en) View
3779271013	en	Fully specified name (core metadata concept)	Congenital wooly hair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
378460016 - Congenital woolly hair (en) View
378460016	en	Synonym (core metadata concept)	Congenital woolly hair	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12071130021) - 254231002 -> 782964007 (116680003) View
116680003 \|Is a (attribute)\|	782964007 \|Genetic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12071131020) - 254231002 -> 267811000 (116680003) View
116680003 \|Is a (attribute)\|	267811000 \|Disorder of hair shaft (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15551726023) - 254231002 -> 402774006 (116680003) View
116680003 \|Is a (attribute)\|	402774006 \|Genetic defect of hair shaft (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (74356023) - 254231002 -> 52564001 (116680003) View
116680003 \|Is a (attribute)\|	52564001 \|Wooly hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (74355022) - 254231002 -> 254228003 (116680003) View
116680003 \|Is a (attribute)\|	254228003 \|Congenital morphological disturbances of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11292525021) - 254231002 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3457852025) - 254231002 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4974655020) - 254231002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974656021) - 254231002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028883029) - 254231002 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6127024026) - 254231002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516719026) - 254231002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516720021) - 254231002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (580191027) - 254231002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3433545025) - 254231002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1736482023) - 254231002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2579168022) - 254231002 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1955316025) - 254231002 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2256534026) - 254231002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (580192023) - 254231002 -> 58240005 (363698007) View
363698007 \|Finding site (attribute)\|	58240005 \|Hair structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
403794008 View
403794008	Autosomal dominant familial woolly hair (disorder)	Autosomal dominant familial wooly hair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
403795009 View
403795009	Autosomal recessive familial woolly hair (disorder)	Autosomal recessive familial wooly hair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
778010006 View
778010006	Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder)	Skin fragility, wooly hair, palmoplantar keratoderma 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 (c4fe293a-9e10-5dbe-9cca-46e50d52e359) 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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