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Terminology chevron_right Concepts chevron_right 41799005

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Component

41799005

The component that hold information about this concept.

Fully Specified Name (FSN)

Hereditary retinal dystrophy (disorder)

Shortest Term

Hereditary retinal dystrophy

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

Hereditary retinal dystrophy (disorder)

SCTID: 41799005, Primitive, Active

41799005|Hereditary retinal dystrophy (disorder)|

en Hereditary retinal dystrophy
en Hereditary retinal dystrophy (disorder)

Expression

41799005 |Hereditary retinal dystrophy (disorder)|
 <<< 314407005 |Retinal dystrophy (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
69728015 - Hereditary retinal dystrophy (en) View
69728015	en	Synonym (core metadata concept)	Hereditary retinal dystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
778627018 - Hereditary retinal dystrophy (disorder) (en) View
778627018	en	Fully specified name (core metadata concept)	Hereditary retinal dystrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
69729011 - Hereditary retinal dystrophy, NOS (en) View
69729011	en	Synonym (core metadata concept)	Hereditary retinal dystrophy, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (776496028) - 41799005 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5049144029) - 41799005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5049145028) - 41799005 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (216202028) - 41799005 -> 32895009 (116680003) View
116680003 \|Is a (attribute)\|	32895009 \|Hereditary disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674935025) - 41799005 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (216203022) - 41799005 -> 314407005 (116680003) View
116680003 \|Is a (attribute)\|	314407005 \|Retinal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
314407005 View
314407005	Retinal dystrophy (disorder)	Retinal dystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
698847000 View
698847000	Hereditary retinal dystrophy primarily involving retinal pigment epithelium (disorder)	Inherited retinal dystrophy primarily involving retinal pigment epithelium	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
80328002 View
80328002	Progressive cone-rod dystrophy (disorder)	Cone-rod retinal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86923008 View
86923008	Juvenile retinoschisis (disorder)	Juvenile retinoschisis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172636006 View
1172636006	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)	Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
36524008 View
36524008	Hyaline dystrophy of bruch's membrane (disorder)	Hereditary drusen	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
193411004 View
193411004	Dominant drusen (disorder)	Dominant drusen	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
232013002 View
232013002	Macular retinoschisis (disorder)	Macular retinoschisis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
312917007 View
312917007	Cone dystrophy (disorder)	Cone dystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
770434009 View
770434009	Familial benign flecked retina (disorder)	Familial benign flecked retina	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
771342004 View
771342004	Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)	Mrcs syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773576000 View
773576000	Progressive retinal dystrophy due to retinol transport defect (disorder)	Retinol dystrophy, iris coloboma, comedogenic acne syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773583007 View
773583007	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder)	Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
774152007 View
774152007	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies (disorder)	Retinal dystrophy with inner nuclear layer and ganglion cell anomalies	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764939004 View
764939004	Fundus albipunctatus (disorder)	Fundus albipunctatus	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765191009 View
765191009	Kandori fleck retina syndrome (disorder)	Fleck retina of kandori	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723828008 View
723828008	Autosomal recessive bestrophinopathy (disorder)	Retinopathy burgess black type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
725168006 View
725168006	Aland islands eye disease (disorder)	Aland islands eye disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719205008 View
719205008	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder)	Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719266007 View
719266007	Progressive bifocal chorioretinal atrophy (disorder)	Progressive bifocal chorioretinal atrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719431007 View
719431007	Autosomal dominant late-onset retinal degeneration (disorder)	Late-onset retinal degeneration	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
722066001 View
722066001	Oligocone trichromacy (disorder)	Oligocone syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715562001 View
715562001	Retinitis punctata albescens (disorder)	Retinitis punctata albescens	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715628009 View
715628009	Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)	Morm syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715647007 View
715647007	Bothnia retinal dystrophy (disorder)	Vasterbotten dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716663009 View
716663009	Severe early childhood onset retinal dystrophy (disorder)	Severe early childhood onset retinal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
711162004 View
711162004	Autosomal dominant vitreoretinochoroidopathy (disorder)	Autosomal dominant vitreoretinochoroidopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
707608003 View
707608003	Amelogenesis imperfecta co-occurrent with cone rod dystrophy (disorder)	Jalili syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
698848005 View
698848005	Hereditary retinal dystrophy primarily involving sensory retina (disorder)	Inherited retinal dystrophy primarily involving sensory retina	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15059000 View
15059000	Retinal dystrophy in systemic lipidosis (disorder)	Retinal dystrophy in systemic lipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
28835009 View
28835009	Retinitis pigmentosa (disorder)	Viêm võng mạc sắc tố	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63702009 View
63702009	Alstrom syndrome (disorder)	Alstrom syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
79556007 View
79556007	Vitreoretinal dystrophy (disorder)	Vitreoretinal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
193400007 View
193400007	Hereditary retinal dystrophies in lipidoses (disorder)	Hereditary retinal dystrophies in lipidoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
193409008 View
193409008	Hyaline retinal dystrophy (disorder)	Hyaline retinal dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
193413001 View
193413001	Leber's amaurosis (disorder)	Leber amaurosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232061009 View
232061009	Congenital stationary night blindness (disorder)	Congenital stationary night blindness	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
276436007 View
276436007	Hereditary macular dystrophy (disorder)	Macular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
312927001 View
312927001	Bietti's crystalline retinopathy (disorder)	Bietti crystalline retinopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
313003009 View
313003009	Rod dystrophy (disorder)	Rod dystrophy	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 (5bd25c44-6942-59fb-9c28-5aca37bfad83) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H35.5	TRUE	ALWAYS H35.5	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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