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19416009: Congenital anomaly of eye (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
32707017 Congenital anomaly of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32710012 Congenital deformity of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479474017 Congenital abnormality of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479475016 Congenital anomaly of the globe en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479476015 Congenital eye anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747514015 Congenital anomaly of eye (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006523012 Congenital malformation of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32707017 Congenital anomaly of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
32707017 Congenital anomaly of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
32707017 Congenital anomaly of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32710012 Congenital deformity of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
32710012 Congenital deformity of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479474017 Congenital abnormality of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
479474017 Congenital abnormality of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479475016 Congenital anomaly of the globe en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
479475016 Congenital anomaly of the globe en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
479475016 Congenital anomaly of the globe en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
479476015 Congenital eye anomalies en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
479476015 Congenital eye anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747514015 Congenital anomaly of eye (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
747514015 Congenital anomaly of eye (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1208675018 Congenital anolmaly of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1222294015 Congenital anolmaly of the globe en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3006523012 Congenital malformation of eye en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3006523012 Congenital malformation of eye en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
389791000274115 Angeborene Fehlbildung des Auges de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
516201000274114 Kongenitale Anomalie des Augapfels de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
639251000274119 Kongenitale Anomalie des Auges de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
379111000172110 anomalie congénitale de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
379111000172110 anomalie congénitale de l'œil fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
389791000274115 Angeborene Fehlbildung des Auges de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
516201000274114 Kongenitale Anomalie des Augapfels de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
639251000274119 Kongenitale Anomalie des Auges de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

474 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of eye Is a Disease of eye false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Is a Congenital anomaly of visual system false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Finding site Nervous system structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Finding site Orbital region structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Is a Disorder of eye proper (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of eye Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of eye Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of eye Is a Congenital anomaly of visual system true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Is a Anomaly of eye true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of eye Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of eye Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of pupil Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataracts, facial dysmorphism and neuropathy Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Retinal hemangioblastomatosis Is a False Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Multiple anterior segment anomalies Is a False Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fold of posterior segment of eye Is a False Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Monophthalmos (disorder) Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cystic eyeball Is a False Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Anophthalmos Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmo-acromelic syndrome (disorder) Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Cryptophthalmos syndrome Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
SOX2 anophthalmia syndrome (disorder) Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised by upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Intractable diarrhea with choanal atresia and eye anomaly syndrome Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Deaf blind hypopigmentation syndrome Yemenite type Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia with brain and digit anomaly Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebrofacial syndrome Kaufman type Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare ectodermal dysplasia characterised by the association of epibulbar dermoids and aplasia cutis congenital. Is a False Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
White forelock with malformations syndrome Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Oculoauricular syndrome Schorderet type (disorder) Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Duane's syndrome Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
RAB18 deficiency Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a False Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Hypoplasia of eye Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Congenital epibulbar choristoma of bilateral eyes Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Glaucoma due to congenital anomaly of eye Due to True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept) 2
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect, aortic coarctation, eye abnormality, sternal anomalies syndrome (disorder) Is a True Congenital anomaly of eye Inferred relationship Existential restriction modifier (core metadata concept)

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