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Terminology chevron_right Concepts chevron_right 79410001

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Component

79410001

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital cataract (disorder)

Shortest Term

Congenital cataract

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 cataract (disorder)

SCTID: 79410001, Defined, Active

79410001|Congenital cataract (disorder)|

vi Bệnh đục thủy tinh thể bẩm sinh
en Congenital cataract
en Congenital cataract (disorder)

Expression

79410001 |Congenital cataract (disorder)|
 === 128353007 |Congenital anomaly of lens (disorder)| + 
193570009 |Cataract (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 78076003 |Structure of lens of eye (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
524701000003116 - bệnh đục thủy tinh thể bẩm sinh (vi) View
524701000003116	vi	Synonym (core metadata concept)	bệnh đục thủy tinh thể bẩm sinh	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
131752015 - Congenital cataract (en) View
131752015	en	Synonym (core metadata concept)	Congenital cataract	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
820457017 - Congenital cataract (disorder) (en) View
820457017	en	Fully specified name (core metadata concept)	Congenital cataract (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
131753013 - Congenital cataract, NOS (en) View
131753013	en	Synonym (core metadata concept)	Congenital cataract, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6569422022) - 79410001 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11345234021) - 79410001 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4734220024) - 79410001 -> 609587005 (116676008) View
116676008 \|Associated morphology (attribute)\|	609587005 \|Congenital cataract (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980046020) - 79410001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980048021) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10514642029) - 79410001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11168559023) - 79410001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11168560029) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4734221023) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980047027) - 79410001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2601922028) - 79410001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872309027) - 79410001 -> 16301006 (116676008) View
116676008 \|Associated morphology (attribute)\|	16301006 \|Congenital opacity (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1779045027) - 79410001 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3091062020) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3091063026) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2975447020) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2975448026) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2910460025) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2910461026) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2817504021) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2817505022) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2670064026) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2670065025) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2453435021) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2525717024) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872310021) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2217580023) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2197735029) - 79410001 -> 78076003 (363698007) View
363698007 \|Finding site (attribute)\|	78076003 \|Structure of lens of eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872311020) - 79410001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (872312029) - 79410001 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (277134020) - 79410001 -> 128353007 (116680003) View
116680003 \|Is a (attribute)\|	128353007 \|Congenital anomaly of lens (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (277135021) - 79410001 -> 193570009 (116680003) View
116680003 \|Is a (attribute)\|	193570009 \|Cataract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128353007 View
128353007	Congenital anomaly of lens (disorder)	Congenital lens anomaly	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
193570009 View
193570009	Cataract (disorder)	Cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1279837000 View
1279837000	Congenital cataract microcornea with corneal opacity (disorder)	Congenital cataract microcornea with corneal opacity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1260140008 View
1260140008	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome (disorder)	Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1255268002 View
1255268002	Oculocerebrodental syndrome (disorder)	Oculocerebrodental syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1172683008 View
1172683008	Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)	Sterol-c4-methyl oxidase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890350009 View
890350009	Coralliform cataract (disorder)	Coralliform cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003424006 View
1003424006	Hutterite type cataract (disorder)	Hutterite type cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003884001 View
1003884001	Pulverulent cataract (disorder)	Pulverulent cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
76562003 View
76562003	Congenital subcapsular cataract (disorder)	Congenital subcapsular cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
772224009 View
772224009	Warburg micro syndrome (disorder)	Micro syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773398005 View
773398005	Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome (disorder)	Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773648002 View
773648002	Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Lethal neurodegenerative disorder due to copper transport defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
335861000119104 View
335861000119104	Congenital cataract of right eye (disorder)	Congenital cataract of right eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
341471000119109 View
341471000119109	Congenital cataract of left eye (disorder)	Congenital cataract of left eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
726704006 View
726704006	Cataract, congenital heart disease, neural tube defect syndrome (disorder)	Cataract, congenital heart disease, neural tube defect syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
726709001 View
726709001	Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)	Primrose syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
732952003 View
732952003	Congenital cataract ichthyosis syndrome (disorder)	Congenital cataract ichthyosis syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
717812000 View
717812000	Congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome (disorder)	Sengers syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718766002 View
718766002	Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder)	Spondyloepiphyseal dysplasia nishimura type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719102004 View
719102004	Congenital cataract with ataxia and deafness syndrome (disorder)	Congenital cataract with ataxia and deafness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721015008 View
721015008	Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Hec syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721076000 View
721076000	Siegler brewer carey syndrome (disorder)	Siegler brewer carey syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721233005 View
721233005	Hypergonadotropic hypogonadism with cataract syndrome (disorder)	Lubinsky syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722378009 View
722378009	Congenital cataract with deafness and hypogonadism syndrome (disorder)	Schaap taylor baraitser 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
722380003 View
722380003	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)	Martsolf syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722381004 View
722381004	Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	Crome syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722382006 View
722382006	Cataract and microcornea syndrome (disorder)	Cataract and microcornea syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715988005 View
715988005	Cataract with aberrant oral frenula and growth delay syndrome (disorder)	Wellesley carman french syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715989002 View
715989002	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	Karandikar maria kamble syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716099003 View
716099003	Absence deformity of leg and congenital cataract syndrome (disorder)	Absence deformity of leg and congenital cataract syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
716170005 View
716170005	Deafness with cataract and skeletal anomaly syndrome (disorder)	Nathalie syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
342831000119100 View
342831000119100	Congenital combined form cataract (disorder)	Congenital combined form cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
5361003 View
5361003	Embryonal nuclear cataract (disorder)	Embryonal nuclear cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
28550007 View
28550007	Congenital capsular cataract (disorder)	Đục thủy tinh thể bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
253223002 View
253223002	Congenital polar cataract (disorder)	Congenital polar cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
445257004 View
445257004	Nance-horan syndrome (disorder)	Nance-horan syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
370483001 View
370483001	Mittendorf's dot (disorder)	Mittendorf dot	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
66499004 View
66499004	Congenital cortical cataract (disorder)	Congenital cortical cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
15552004 View
15552004	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly and cataracts (disorder)	Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly and cataracts	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
21590003 View
21590003	Congenital zonular cataract (disorder)	Congenital zonular cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
29590001 View
29590001	Congenital total cataract (disorder)	Congenital total cataract	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
79385002 View
79385002	Lowe syndrome (disorder)	Lowe disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80734006 View
80734006	Marinesco-sjögren syndrome (disorder)	Marinesco-sjogren syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
204127006 View
204127006	Cortical and zonular cataract (disorder)	Cortical and zonular cataract	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
204139003 View
204139003	Congenital membranous cataract (disorder)	Congenital membranous cataract	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 (3b8176c3-4b64-5506-9abe-35106d272765) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q12.0	TRUE	ALWAYS Q12.0	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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