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Terminology chevron_right Concepts chevron_right 56797000

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Component

56797000

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital hypertrichosis (disorder)

Shortest Term

Congenital hypertrichosis

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

Congenital hypertrichosis (disorder)

SCTID: 56797000, Defined, Active

56797000|Congenital hypertrichosis (disorder)|

en Congenital hypertrichosis
en Congenital hypertrichosis (disorder)

Expression

56797000 |Congenital hypertrichosis (disorder)|
 === 65033000 |Congenital anomaly of hair (disorder)| + 
29966009 |Hypertrichosis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 57697001 |Growth alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 386045008 |Hair 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
94458019 - Congenital hypertrichosis (en) View
94458019	en	Synonym (core metadata concept)	Congenital hypertrichosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
795348018 - Congenital hypertrichosis (disorder) (en) View
795348018	en	Fully specified name (core metadata concept)	Congenital hypertrichosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
94459010 - Hypertrichosis universalis (en) View
94459010	en	Synonym (core metadata concept)	Hypertrichosis universalis	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4975157021) - 56797000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4993894024) - 56797000 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11120807023) - 56797000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11120808029) - 56797000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12085963029) - 56797000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12085964024) - 56797000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2487641029) - 56797000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3327677029) - 56797000 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4975158027) - 56797000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11120806025) - 56797000 -> 57697001 (116676008) View
116676008 \|Associated morphology (attribute)\|	57697001 \|Growth alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (814923021) - 56797000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3462088026) - 56797000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1771494021) - 56797000 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2035216028) - 56797000 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2268230027) - 56797000 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (240513026) - 56797000 -> 239122002 (116680003) View
116680003 \|Is a (attribute)\|	239122002 \|Malformation or hamartoma of pilosebaceous apparatus (navigational concept)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (814922027) - 56797000 -> 58240005 (363698007) View
363698007 \|Finding site (attribute)\|	58240005 \|Hair structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (240512020) - 56797000 -> 65033000 (116680003) View
116680003 \|Is a (attribute)\|	65033000 \|Congenital anomaly of hair (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (240514021) - 56797000 -> 29966009 (116680003) View
116680003 \|Is a (attribute)\|	29966009 \|Hypertrichosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
65033000 View
65033000	Congenital anomaly of hair (disorder)	Congenital anomaly of hair	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
29966009 View
29966009	Hypertrichosis (disorder)	Polytrichia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
838368005 View
838368005	Congenital generalized hypertrichosis (disorder)	Congenital generalised hypertrichosis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
771181009 View
771181009	Hypertrichosis cubiti (disorder)	Hairy elbows syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763618001 View
763618001	Wiedemann steiner syndrome (disorder)	Wiedemann steiner syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717963001 View
717963001	Isolated anterior cervical hypertrichosis (disorder)	Hairy throat syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720852000 View
720852000	Cervical hypertrichosis and peripheral neuropathy syndrome (disorder)	Cervical hypertrichosis and peripheral neuropathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720983002 View
720983002	Amaurosis hypertrichosis syndrome (disorder)	Amaurosis hypertrichosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722379001 View
722379001	Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder)	Cahmr syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
408537003 View
408537003	Barber-say syndrome (disorder)	Barber-say syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403532006 View
403532006	Hypertrichosis with congenital macrogingivae (disorder)	Hypertrichosis with congenital macrogingivae	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
403799003 View
403799003	Congenital hypertrichosis lanuginosa (disorder)	Congenital hypertrichosis lanuginosa	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 (6993c2f2-6904-52d5-9322-61d517442c56) 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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