dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 403795009

Production

add

Component

403795009

The component that hold information about this concept.

Fully Specified Name (FSN)

Autosomal recessive familial woolly hair (disorder)

Shortest Term

Autosomal recessive 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 recessive familial woolly hair (disorder)

SCTID: 403795009, Defined, Active

403795009|Autosomal recessive familial woolly hair (disorder)|

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

Expression

403795009 |Autosomal recessive familial woolly hair (disorder)|
 === 254231002 |Congenital woolly hair (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (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
1771721010 - Autosomal recessive familial woolly hair (disorder) (en) View
1771721010	en	Fully specified name (core metadata concept)	Autosomal recessive familial woolly hair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
3779275016 - Autosomal recessive familial wooly hair (en) View
3779275016	en	Synonym (core metadata concept)	Autosomal recessive familial wooly hair	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3779276015 - Autosomal recessive familial wooly hair (disorder) (en) View
3779276015	en	Fully specified name (core metadata concept)	Autosomal recessive familial wooly hair (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1782805017 - Autosomal recessive familial woolly hair (en) View
1782805017	en	Synonym (core metadata concept)	Autosomal recessive 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 (13070037028) - 403795009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12084791021) - 403795009 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12084792025) - 403795009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3337170020) - 403795009 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4973981027) - 403795009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973982023) - 403795009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5028833023) - 403795009 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6148673029) - 403795009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519927027) - 403795009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519928021) - 403795009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2291065020) - 403795009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3337169024) - 403795009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2291067028) - 403795009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2641236029) - 403795009 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2291066021) - 403795009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2291068022) - 403795009 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2250478029) - 403795009 -> 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	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
764108000 View
764108000	Wooly hair with palmoplantar keratoderma syndrome (disorder)	Keratoderma with wooly hair type iv	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719835006 View
719835006	Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome (disorder)	Carvajal syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715535009 View
715535009	Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)	Naxos disease	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 (1f631dcf-7314-5241-87e3-40a7240ead8c) 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)\|

Terminology chevron_right Concepts chevron_right 403795009

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches