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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
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

481 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 Some
Congenital anomaly of eye Is a Congenital anomaly of visual system false Inferred relationship Some
Congenital anomaly of eye Is a Congenital structural abnormality of orbit proper (disorder) false Inferred relationship Some
Congenital anomaly of eye Finding site Structure of nervous system (body structure) false Inferred relationship Some
Congenital anomaly of eye Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of eye Finding site Eye structure false Inferred relationship Some 1
Congenital anomaly of eye Occurrence Congenital false Inferred relationship Some
Congenital anomaly of eye Finding site Orbital region structure false Inferred relationship Some 1
Congenital anomaly of eye Is a Disorder of eye proper (disorder) false Inferred relationship Some
Congenital anomaly of eye Is a Congenital anomaly of head false Inferred relationship Some
Congenital anomaly of eye Is a Congenital disease false Inferred relationship Some
Congenital anomaly of eye Is a Congenital anomaly of head true Inferred relationship Some
Congenital anomaly of eye Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of eye Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of eye Finding site Eye structure false Inferred relationship Some 1
Congenital anomaly of eye Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of eye Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of eye Finding site Eye structure false Inferred relationship Some 2
Congenital anomaly of eye Is a Congenital anomaly of visual system true Inferred relationship Some
Congenital anomaly of eye Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of eye Finding site Eye structure true Inferred relationship Some 1
Congenital anomaly of eye Is a Anomaly of eye (disorder) true Inferred relationship Some
Congenital anomaly of eye Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of eye Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital anomaly of pupil Is a True Congenital anomaly of eye Inferred relationship Some
Congenital cataracts, facial dysmorphism and neuropathy Is a True Congenital anomaly of eye Inferred relationship Some
Retinal hemangioblastomatosis Is a False Congenital anomaly of eye Inferred relationship Some
Multiple anterior segment anomalies Is a False Congenital anomaly of eye Inferred relationship Some
Congenital fold of posterior segment of eye Is a False Congenital anomaly of eye Inferred relationship Some
Monophthalmos Is a False Congenital anomaly of eye Inferred relationship Some
Congenital cystic eyeball (disorder) Is a False Congenital anomaly of eye Inferred relationship Some
Anophthalmos Is a True Congenital anomaly of eye Inferred relationship Some
Ophthalmo-acromelic syndrome (disorder) Is a True Congenital anomaly of eye Inferred relationship Some
Cryptophthalmos syndrome Is a True Congenital anomaly of eye Inferred relationship Some
SOX2 anophthalmia syndrome Is a True Congenital anomaly of eye Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized 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 Some
Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterized by the association of intractable diarrhea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhea of infancy described previously. Is a True Congenital anomaly of eye Inferred relationship Some
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 Some
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. Is a True Congenital anomaly of eye Inferred relationship Some
Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. Is a True Congenital anomaly of eye Inferred relationship Some
A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. Is a True Congenital anomaly of eye Inferred relationship Some
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 Some
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 Some
A rare ectodermal dysplasia characterized by the association of epibulbar dermoids and aplasia cutis congenital. Is a False Congenital anomaly of eye Inferred relationship Some
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 Some
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. Is a True Congenital anomaly of eye Inferred relationship Some
Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). Is a True Congenital anomaly of eye Inferred relationship Some
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 Some
Duane's syndrome Is a True Congenital anomaly of eye Inferred relationship Some
RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene. Is a True Congenital anomaly of eye Inferred relationship Some
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 Some
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. Is a True Congenital anomaly of eye Inferred relationship Some
Lowe syndrome Is a False Congenital anomaly of eye Inferred relationship Some
Hypoplasia of eye Is a True Congenital anomaly of eye Inferred relationship Some
Congenital epibulbar choristoma of bilateral eyes Is a True Congenital anomaly of eye Inferred relationship Some
Glaucoma due to congenital anomaly of eye Due to True Congenital anomaly of eye Inferred relationship Some 2
Epibulbar lipodermoid - preauricular appendages - polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. Is a True Congenital anomaly of eye Inferred relationship Some
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 Some
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. Is a True Congenital anomaly of eye Inferred relationship Some
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 Some
Congenital malformation of vitreous humour Is a True Congenital anomaly of eye Inferred relationship Some

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