dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 19416009

Production

add

Component

19416009

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital anomaly of eye (disorder)

Shortest Term

Dị tật bẩm sinh của mắt

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 anomaly of eye (disorder)

SCTID: 19416009, Defined, Active

19416009|Congenital anomaly of eye (disorder)|

vi Dị tật bẩm sinh của mắt
en Congenital abnormality of eye
en Congenital anomaly of eye
en Congenital anomaly of eye (disorder)
en Congenital anomaly of the globe
en Congenital deformity of eye
en Congenital eye anomalies
en Congenital malformation of eye

Expression

19416009 |Congenital anomaly of eye (disorder)|
 === 11131000119108 |Anomaly of eye (disorder)| + 
127329003 |Congenital anomaly of visual system (disorder)| + 
87290003 |Congenital anomaly of head (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81745001 |Structure of eye proper (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
602281000003113 - dị tật bẩm sinh của mắt (vi) View
602281000003113	vi	Synonym (core metadata concept)	dị tật bẩm sinh của mắt	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
479474017 - Congenital abnormality of eye (en) View
479474017	en	Synonym (core metadata concept)	Congenital abnormality of eye	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
32707017 - Congenital anomaly of eye (en) View
32707017	en	Synonym (core metadata concept)	Congenital anomaly of eye	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
747514015 - Congenital anomaly of eye (disorder) (en) View
747514015	en	Fully specified name (core metadata concept)	Congenital anomaly of eye (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
479475016 - Congenital anomaly of the globe (en) View
479475016	en	Synonym (core metadata concept)	Congenital anomaly of the globe	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
32710012 - Congenital deformity of eye (en) View
32710012	en	Synonym (core metadata concept)	Congenital deformity of eye	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
479476015 - Congenital eye anomalies (en) View
479476015	en	Synonym (core metadata concept)	Congenital eye anomalies	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3006523012 - Congenital malformation of eye (en) View
3006523012	en	Synonym (core metadata concept)	Congenital malformation of eye	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1208675018 - Congenital anolmaly of eye (en) View
1208675018	en	Synonym (core metadata concept)	Congenital anolmaly of eye	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
1222294015 - Congenital anolmaly of the globe (en) View
1222294015	en	Synonym (core metadata concept)	Congenital anolmaly of the globe	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
32708010 - Congenital anomaly of eye, NOS (en) View
32708010	en	Synonym (core metadata concept)	Congenital anomaly of eye, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
32709019 - Congenital deformity of eye, NOS (en) View
32709019	en	Synonym (core metadata concept)	Congenital deformity of eye, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4976178028) - 19416009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976179020) - 19416009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4976180023) - 19416009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5871611021) - 19416009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5871612025) - 19416009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531646024) - 19416009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531647026) - 19416009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1670258029) - 19416009 -> 371405004 (116680003) View
116680003 \|Is a (attribute)\|	371405004 \|Disorder of eye proper (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6440074023) - 19416009 -> 11131000119108 (116680003) View
116680003 \|Is a (attribute)\|	11131000119108 \|Anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (719734026) - 19416009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3330140028) - 19416009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3444449027) - 19416009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995226022) - 19416009 -> 127329003 (116680003) View
116680003 \|Is a (attribute)\|	127329003 \|Congenital anomaly of visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (719733021) - 19416009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2729569021) - 19416009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2544501027) - 19416009 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2689166025) - 19416009 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (1670259021) - 19416009 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (178672029) - 19416009 -> 79517001 (116680003) View
116680003 \|Is a (attribute)\|	79517001 \|Disease of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (178673023) - 19416009 -> 127329003 (116680003) View
116680003 \|Is a (attribute)\|	127329003 \|Congenital anomaly of visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (178674028) - 19416009 -> 54873004 (116680003) View
116680003 \|Is a (attribute)\|	54873004 \|Congenital anomaly of orbit proper (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719731023) - 19416009 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719732027) - 19416009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (719735025) - 19416009 -> 87716009 (363698007) View
363698007 \|Finding site (attribute)\|	87716009 \|Orbital region structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
11131000119108 View
11131000119108	Anomaly of eye (disorder)	Anomaly of eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
87290003 View
87290003	Congenital anomaly of head (disorder)	Congenital anomaly of head	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
127329003 View
127329003	Congenital anomaly of visual system (disorder)	Congenital anomaly of visual system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1351350008 View
1351350008	Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder)	Phaces syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1285322008 View
1285322008	Triopia (disorder)	Triopia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1279889005 View
1279889005	Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)	Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
26399002 View
26399002	Ocular albinism (disorder)	Ocular albinism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1208480004 View
1208480004	Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder)	Epibulbar lipodermoid, preauricular appendage, polythelia syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
890378005 View
890378005	Congenital epibulbar choristoma of bilateral eyes (disorder)	Bilateral congenital epibulbar choristoma	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61142002 View
61142002	Microphthalmos (disorder)	Small eyeball	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
93181004 View
93181004	Macrophthalmos (disorder)	Macrophthalmia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
785298001 View
785298001	Muscle eye brain disease with bilateral multicystic leukodystrophy (disorder)	Muscle eye brain disease with bilateral multicystic leucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
772225005 View
772225005	Rab18, member ras oncogene family deficiency (disorder)	Rab18 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763619009 View
763619009	White forelock with malformations syndrome (disorder)	White forelock with malformations	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
763815000 View
763815000	Oculoauricular syndrome schorderet type (disorder)	Oculoauricular syndrome schorderet type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
764942005 View
764942005	Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Microphthalmia, coloboma, rhizomelic skeletal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
723449004 View
723449004	Pierson syndrome (disorder)	Pierson syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
61649007 View
61649007	Congenital oculocutaneous hypopigmentation (disorder)	Congenital oculocutaneous hypopigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
720009004 View
720009004	Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder)	Tiêu chảy khó chữa kèm hẹp mũi sau và hội chứng bất thường mắt	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720415006 View
720415006	Acrorenoocular syndrome (disorder)	Acrorenoocular syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720496006 View
720496006	Anophthalmia plus syndrome (disorder)	Anophthalmia plus syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721084001 View
721084001	Deaf blind hypopigmentation syndrome yemenite type (disorder)	Warburg thomsen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721208007 View
721208007	Ectodermal dysplasia with blindness syndrome (disorder)	Ectodermal dysplasia with blindness syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721878003 View
721878003	Microphthalmia with brain and digit anomaly (disorder)	Bakrania ragge syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722056009 View
722056009	Oculocerebrofacial syndrome kaufman type (disorder)	Kaufman oculocerebrofacial syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722458000 View
722458000	Matthew wood syndrome (disorder)	Matthew wood syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
7183006 View
7183006	Anophthalmos (disorder)	Anophthalmia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
716110002 View
716110002	Upper limb defect with eye and ear abnormalities syndrome (disorder)	Upper limb defect with eye and ear abnormalities syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
702433001 View
702433001	Congenital cataracts, facial dysmorphism and neuropathy (disorder)	Congenital cataracts, facial dysmorphism and neuropathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
703403003 View
703403003	Ophthalmo-acromelic syndrome (disorder)	Anophthalmia-syndactyly	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11211000119108 View
11211000119108	Congenital anomaly of pupil (disorder)	Congenital anomaly of pupil	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
698851003 View
698851003	Sox2 anophthalmia syndrome (disorder)	Sox2-related eye disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
699381006 View
699381006	Oculoskeletal dysplasia (disorder)	Oculoskeletal dysplasia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253236002 View
253236002	Congenital malformation of vitreous humor (disorder)	Congenital anomaly of vitreous body	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
429448005 View
429448005	Congenital anomaly of anterior segment of eye (disorder)	Iridocorneal dysgenesis	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
45795007 View
45795007	Melanosis oculi (disorder)	Melanosis oculi	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
93390002 View
93390002	Congenital ocular coloboma (disorder)	Coloboma of eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
32809005 View
32809005	Congenital anomaly of sclera (disorder)	Congenital anomaly of sclera	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
38215007 View
38215007	Oculodentodigital syndrome (disorder)	Oddd syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
60318001 View
60318001	Duane's syndrome (disorder)	Duane syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86527000 View
86527000	Hypoplasia of eye (disorder)	Rudimentary eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
93320008 View
93320008	Congenital malposition of eye (disorder)	Congenital malpositioned eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
128534003 View
128534003	Congenital anomaly of posterior segment of eye (disorder)	Congenital anomaly of posterior segment of eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
204102004 View
204102004	Cryptophthalmos syndrome (disorder)	Fraser syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253241005 View
253241005	Orbital dystopia (disorder)	Orbital dystopia	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 (7e94e97c-a09e-59f5-8824-3207f05e875f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q15.9	TRUE	ALWAYS Q15.9	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 19416009

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches