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Terminology chevron_right Concepts chevron_right 720983002

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Component

720983002

The component that hold information about this concept.

Fully Specified Name (FSN)

Amaurosis hypertrichosis syndrome (disorder)

Shortest Term

Amaurosis hypertrichosis syndrome

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

Amaurosis hypertrichosis syndrome (disorder)

SCTID: 720983002, Primitive, Active

720983002|Amaurosis hypertrichosis syndrome (disorder)|

en Amaurosis hypertrichosis syndrome
en Amaurosis hypertrichosis syndrome (disorder)

Expression

720983002 |Amaurosis hypertrichosis syndrome (disorder)|
 <<< 41799005 |Hereditary retinal dystrophy (disorder)| + 
56797000 |Congenital hypertrichosis (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
49381001 |Congenital anomaly of retina (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 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
3322775011 - Amaurosis hypertrichosis syndrome (en) View
3322775011	en	Synonym (core metadata concept)	Amaurosis hypertrichosis syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3322774010 - Amaurosis hypertrichosis syndrome (disorder) (en) View
3322774010	en	Fully specified name (core metadata concept)	Amaurosis hypertrichosis syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069284025) - 720983002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688564021) - 720983002 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523260029) - 720983002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11120804027) - 720983002 -> 57697001 (116676008) View
116676008 \|Associated morphology (attribute)\|	57697001 \|Growth alteration (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091259023) - 720983002 -> 57697001 (116676008) View
116676008 \|Associated morphology (attribute)\|	57697001 \|Growth alteration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688082028) - 720983002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688084027) - 720983002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688087023) - 720983002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688563026) - 720983002 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688565022) - 720983002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6688566023) - 720983002 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523253024) - 720983002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523254029) - 720983002 -> 386045008 (363698007) View
363698007 \|Finding site (attribute)\|	386045008 \|Hair structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523255028) - 720983002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523256027) - 720983002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523257020) - 720983002 -> 49381001 (116680003) View
116680003 \|Is a (attribute)\|	49381001 \|Congenital anomaly of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523258026) - 720983002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523259023) - 720983002 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523261025) - 720983002 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688078025) - 720983002 -> 41799005 (116680003) View
116680003 \|Is a (attribute)\|	41799005 \|Hereditary retinal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688079022) - 720983002 -> 56797000 (116680003) View
116680003 \|Is a (attribute)\|	56797000 \|Congenital hypertrichosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688080020) - 720983002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6688081024) - 720983002 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (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
41799005 View
41799005	Hereditary retinal dystrophy (disorder)	Hereditary retinal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
49381001 View
49381001	Congenital anomaly of retina (disorder)	Congenital anomaly of retina	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
56797000 View
56797000	Congenital hypertrichosis (disorder)	Congenital hypertrichosis	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
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 (918665c7-84b5-56df-9003-978a94dcf4eb) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H35.5	TRUE	ALWAYS H35.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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