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79410001: Congenital cataract (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
131752015 Congenital cataract en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
820457017 Congenital cataract (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2057391000005114 Kongenit katarakt da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


77 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital cataract Is a Congenital anomaly of lens true Inferred relationship Some
Congenital cataract Is a Cataract (disorder) true Inferred relationship Some
Congenital cataract Associated morphology kongenit opacitet false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Occurrence Congenital false Inferred relationship Some
Congenital cataract Finding site Structure of nervous system (body structure) false Inferred relationship Some
Congenital cataract Associated morphology Opacity false Inferred relationship Some 2
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Occurrence Congenital false Inferred relationship Some
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Associated morphology Congenital cataract false Inferred relationship Some 2
Congenital cataract Finding site Lens clear false Inferred relationship Some 3
Congenital cataract Occurrence Congenital false Inferred relationship Some 2
Congenital cataract Associated morphology dysgenese false Inferred relationship Some 1
Congenital cataract Finding site Lens clear false Inferred relationship Some 2
Congenital cataract Associated morphology Katarakt false Inferred relationship Some 1
Congenital cataract Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital cataract Occurrence Congenital true Inferred relationship Some 1
Congenital cataract Finding site Lens clear true Inferred relationship Some 1
Congenital cataract Associated morphology Opacity true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital lamellar cataract Is a False Congenital cataract Inferred relationship Some
Congenital blue dot cataract Is a False Congenital cataract Inferred relationship Some
Congenital membranous cataract Is a True Congenital cataract Inferred relationship Some
Congenital polar cataract Is a True Congenital cataract Inferred relationship Some
Congenital sutural cataract Is a False Congenital cataract Inferred relationship Some
Rubella cataract Is a False Congenital cataract Inferred relationship Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Congenital cataract Inferred relationship Some
Congenital zonular cataract Is a True Congenital cataract Inferred relationship Some
Congenital capsular cataract Is a True Congenital cataract Inferred relationship Some
Congenital total cataract Is a True Congenital cataract Inferred relationship Some
Embryonal nuclear cataract Is a True Congenital cataract Inferred relationship Some
Kongenit subtotal katarakt Is a False Congenital cataract Inferred relationship Some
Congenital cortical cataract Is a True Congenital cataract Inferred relationship Some
Congenital subcapsular cataract Is a True Congenital cataract Inferred relationship Some
Kongenitte katarakt- eller linseanomalier Is a False Congenital cataract Inferred relationship Some
kongenit katarakt, uspecificeret Is a False Congenital cataract Inferred relationship Some
Family history of congenital cataract (situation) Associated finding False Congenital cataract Inferred relationship Some 1
Family history of congenital cataract (situation) Associated finding True Congenital cataract Inferred relationship Some 1
Family history of congenital cataract (situation) Associated finding False Congenital cataract Inferred relationship Some 1
Nance-Horan syndrome (disorder) Is a True Congenital cataract Inferred relationship Some
Congenital combined form cataract Is a True Congenital cataract Inferred relationship Some
Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. Is a True Congenital cataract Inferred relationship Some
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Is a True Congenital cataract Inferred relationship Some
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterized by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Is a True Congenital cataract Inferred relationship Some
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. Is a True Congenital cataract Inferred relationship Some
A rare genetic disease characterized by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Is a True Congenital cataract Inferred relationship Some
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. Is a True Congenital cataract Inferred relationship Some
A rare, syndromic, genetic respiratory disease characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infections, and failure to thrive. Recurrent pneumonia and progressive azotemia, leading to end-stage renal disease and early death, are additionally observed. There have been no further descriptions in the literature since 1992. Is a True Congenital cataract Inferred relationship Some
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. Is a True Congenital cataract Inferred relationship Some
A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. Is a True Congenital cataract Inferred relationship Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. Is a True Congenital cataract Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome Is a False Congenital cataract Inferred relationship Some
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Is a True Congenital cataract Inferred relationship Some
Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait. Is a True Congenital cataract Inferred relationship Some
This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Is a True Congenital cataract Inferred relationship Some
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. Is a True Congenital cataract Inferred relationship Some
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed. Is a True Congenital cataract Inferred relationship Some
Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). Hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. Is a True Congenital cataract Inferred relationship Some
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. Is a True Congenital cataract Inferred relationship Some
Congenital cataract ichthyosis syndrome Is a True Congenital cataract Inferred relationship Some
Congenital cataract of left eye (disorder) Is a True Congenital cataract Inferred relationship Some
Congenital cataract of right eye Is a True Congenital cataract Inferred relationship Some
Cortical and zonular cataract Is a True Congenital cataract Inferred relationship Some
An autosomal recessive disorder with characteristics of ocular and neurodevelopmental defects and micro genitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. With exception of the ophthalmologic features, the clinical and dysmorphic findings are either unapparent or subtle in the early postnatal period. Mutations in RAB3GAP, a gene showing linkage to a region of homozygosity at 2q21.3, have been identified in some families. Is a True Congenital cataract Inferred relationship Some
A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. Is a True Congenital cataract Inferred relationship Some
A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. Is a True Congenital cataract Inferred relationship Some
Mittendorf's dot (disorder) Is a True Congenital cataract Inferred relationship Some
Marinesco-Sjögren syndrome (disorder) Is a True Congenital cataract Inferred relationship Some
Coralliform cataract (disorder) Is a True Congenital cataract Inferred relationship Some
Hutterite type cataract (disorder) Is a True Congenital cataract Inferred relationship Some
Pulverulent cataract (disorder) Is a True Congenital cataract Inferred relationship Some
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity, and immune dysregulation. Behavioral disorder, joint contractures, and arthralgia have also been described. Is a True Congenital cataract Inferred relationship Some
Lowe syndrome Is a True Congenital cataract Inferred relationship Some
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Congenital cataract Inferred relationship Some
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Is a True Congenital cataract Inferred relationship Some
A rare genetic eye disease characterized by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Is a True Congenital cataract Inferred relationship Some

This concept is not in any reference sets

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